KNOWLEDGE CHECK: PEDIATRICS NURS 6501
Walden University KNOWLEDGE CHECK: PEDIATRICS NURS 6501-Step-By-Step Guide
This guide will demonstrate how to complete the Walden University KNOWLEDGE CHECK: PEDIATRICS NURS 6501 assignment based on general principles of academic writing. Here, we will show you the A, B, Cs of completing an academic paper, irrespective of the instructions. After guiding you through what to do, the guide will leave one or two sample essays at the end to highlight the various sections discussed below.
How to Research and Prepare for KNOWLEDGE CHECK: PEDIATRICS NURS 6501
Whether one passes or fails an academic assignment such as the Walden University KNOWLEDGE CHECK: PEDIATRICS NURS 6501 depends on the preparation done beforehand. The first thing to do once you receive an assignment is to quickly skim through the requirements. Once that is done, start going through the instructions one by one to clearly understand what the instructor wants. The most important thing here is to understand the required format—whether it is APA, MLA, Chicago, etc.
After understanding the requirements of the paper, the next phase is to gather relevant materials. The first place to start the research process is the weekly resources. Go through the resources provided in the instructions to determine which ones fit the assignment. After reviewing the provided resources, use the university library to search for additional resources. After gathering sufficient and necessary resources, you are now ready to start drafting your paper.
How to Write the Introduction for KNOWLEDGE CHECK: PEDIATRICS NURS 6501
The introduction for the Walden University KNOWLEDGE CHECK: PEDIATRICS NURS 6501 is where you tell the instructor what your paper will encompass. In three to four statements, highlight the important points that will form the basis of your paper. Here, you can include statistics to show the importance of the topic you will be discussing. At the end of the introduction, write a clear purpose statement outlining what exactly will be contained in the paper. This statement will start with “The purpose of this paper…” and then proceed to outline the various sections of the instructions.

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How to Write the Body for KNOWLEDGE CHECK: PEDIATRICS NURS 6501
After the introduction, move into the main part of the KNOWLEDGE CHECK: PEDIATRICS NURS 6501 assignment, which is the body. Given that the paper you will be writing is not experimental, the way you organize the headings and subheadings of your paper is critically important. In some cases, you might have to use more subheadings to properly organize the assignment. The organization will depend on the rubric provided. Carefully examine the rubric, as it will contain all the detailed requirements of the assignment. Sometimes, the rubric will have information that the normal instructions lack.
Another important factor to consider at this point is how to do citations. In-text citations are fundamental as they support the arguments and points you make in the paper. At this point, the resources gathered at the beginning will come in handy. Integrating the ideas of the authors with your own will ensure that you produce a comprehensive paper. Also, follow the given citation format. In most cases, APA 7 is the preferred format for nursing assignments.
How to Write the Conclusion for KNOWLEDGE CHECK: PEDIATRICS NURS 6501
After completing the main sections, write the conclusion of your paper. The conclusion is a summary of the main points you made in your paper. However, you need to rewrite the points and not simply copy and paste them. By restating the points from each subheading, you will provide a nuanced overview of the assignment to the reader.
How to Format the References List for KNOWLEDGE CHECK: PEDIATRICS NURS 6501
The very last part of your paper involves listing the sources used in your paper. These sources should be listed in alphabetical order and double-spaced. Additionally, use a hanging indent for each source that appears in this list. Lastly, only the sources cited within the body of the paper should appear here.
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KNOWLEDGE CHECK: PEDIATRICS NURS 6501
KNOWLEDGE CHECK PEDIATRICS NURS 6501
Scenario 3: Hemophilia
8-month infant is brought into the office due to a swollen right knee and excessive bruising. The parents have noticed bruising about a month ago but thought the bruising was due to the attempts to crawl. They became concerned when the baby woke up with a swollen knee. Infant up to date on all immunizations, has not had any medical problems since birth and has met all developmental milestones.
FH: negative for any history of bleeding disorders or other major genetic diseases.
PE: within normal limits except for obvious bruising on the extremities and right knee. Knee is swollen but no warmth appreciated. Range of motion of knee limited due to the swelling.
DIAGNOSIS: hemophilia A.
Question
1. What is the pathophysiology of Hemophilia
Hemophilia is a genetic disorder that affects the blood’s ability to clot properly, leading to prolonged bleeding and difficulty in forming stable blood clots. The disorder is caused by a deficiency or dysfunction of specific clotting factors in the blood. There are different types of hemophilia, and in this scenario, the diagnosis is hemophilia A, which is characterized by a deficiency of clotting factor VIII.
Pathophysiology of Hemophilia A
Normal Blood Clotting Cascade: In a normal blood clotting process, there is a complex cascade of reactions that involves a series of clotting factors, which are proteins produced by the liver. These factors work together in a stepwise manner to form a stable blood clot, preventing excessive bleeding when there is an injury or damage to blood vessels.
Clotting Factor VIII Deficiency: In hemophilia A, there is a deficiency or dysfunction of clotting factor VIII. Factor VIII is essential for the activation of another clotting factor, factor X, which is a crucial step in the clotting cascade. Without sufficient factor VIII, the clotting cascade is disrupted, leading to impaired blood clot formation.
Prolonged Bleeding: Due to the deficiency of factor VIII, individuals with hemophilia A experience prolonged bleeding after injuries, surgeries, or even minor trauma. Small blood vessels are unable to form stable clots, leading to excessive bleeding and bruising. Bleeding can occur both externally and internally into joints, muscles, and other tissues.
Spontaneous Bleeding: In some cases, bleeding can occur spontaneously without apparent cause, as seen in the scenario where the infant woke up with a swollen knee. This is especially common in more severe cases of hemophilia.
Joint and Muscle Bleeding: Repeated bleeding episodes, especially into joints and muscles, can lead to chronic inflammation and damage. The repeated bleeding causes irritation and inflammation in these areas, leading to pain, swelling, and limited joint movement.
Treatment: Hemophilia A is managed by replacing the deficient clotting factor VIII. This can be done through intravenous infusions of clotting factor concentrates. Prophylactic treatment may be prescribed to prevent bleeding episodes. Additionally, patients and their families are often educated about managing bleeding risks and preventing complications.
Question 1
Scenario 1: Acute Lymphoblastic Leukemia (ALL)An 11-year-old boy is brought to the clinic by his parents who states that the boy has not been eating and listless. The mother also notes that he has been easily bruising without trauma as he says he is too tired to go out and play. He says his bones hurt sometimes. Mother states the child has had intermittent fevers that respond to acetaminophen. Maternal history negative for pre, intra, or post-partum problems. PMH: Negative. Easily reached developmental milestones. PE: reveals a thin, very pale child who has bruises on his arms and legs in no particular pattern. LABS: CBC revealed Hemoglobin of 6.9/dl, hematocrit of 19%, and platelet count of 80,000/mm3. The CMP demonstrated a blood urea nitrogen (BUN) of 34m g/dl and creatinine of 2.9 mg/dl. DIAGNOSIS: acute leukemia and renal failure and immediately refers the patient to the Emergency Room where a pediatric hematologist has been consulted and is waiting for the boy and his parents. CONFIRMED DX: acute lymphoblastic leukemia (ALL) was made after extensive testing. Question1. Explain what ALL is? |
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· Question 2
4 out of 4 points
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Scenario 1: Acute Lymphoblastic Leukemia (ALL)An 11-year-old boy is brought to the clinic by his parents who states that the boy has not been eating and listless. The mother also notes that he has been easily bruising without trauma as he says he is too tired to go out and play. He says his bones hurt sometimes. Mother states the child has had intermittent fevers that respond to acetaminophen. Maternal history negative for pre, intra, or post-partum problems. ![]() PMH: Negative. Easily reached developmental milestones. PE: reveals a thin, very pale child who has bruises on his arms and legs in no particular pattern. LABS: CBC revealed Hemoglobin of 6.9/dl, hematocrit of 19%, and platelet count of 80,000/mm3. The CMP demonstrated a blood urea nitrogen (BUN) of 34m g/dl and creatinine of 2.9 mg/dl. DIAGNOSIS: acute leukemia and renal failure and immediately refers the patient to the Emergency Room where a pediatric hematologist has been consulted and is waiting for the boy and his parents. CONFIRMED DX: acute lymphoblastic leukemia (ALL) was made after extensive testing. Question1. Why does ARF occur in some patients with ALL? |
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· Question 3
4 out of 4 points
Scenario 2: Sickle Cell Disease (SCD)A 15-year-old male with known sickle cell disease (SCD) present to the ER in sickle cell crisis. The patient is crying with pain and states this is the third acute episode he has had in the last 10-months. Both parents are present and appear very anxious and teary eyed. A diagnosis of acute sickle cell crisis was made. Question1. Explain the pathophysiology of acute SCD crisis. Why is pain the predominate feature of acute crises? |
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Question 5
4 out of 4 points
Scenario 3: Hemophilia 8-month infant is brought into the office due to a swollen right knee and excessive bruising. The parents have noticed bruising about a month ago but thought the bruising was due to the attempts to crawl. They became concerned when the baby woke up with a swollen knee. Infant up to date on all immunizations, has not had any medical problems since birth and has met all developmental milestones. FH: negative for any history of bleeding disorders or other major genetic diseases. PE: within normal limits except for obvious bruising on the extremities and right knee. Knee is swollen but no warmth appreciated. Range of motion of knee limited due to the swelling. DIAGNOSIS: hemophilia A. Question 1. What is the pathophysiology of Hemophilia | ||||
Selected Answer: Hemophilia is the most prevalent severe hereditary bleeding disorder and is characterized by the inability to form thrombi in response to injury, resulting in continuous bleeding. Both hemophilia A and B result from mutations in the F8 gene and F9 gene. Changes or mutations of the genes result in deficiency or dysfunction of clotting factors VIII and IX, respectively. Specifically, “inversions in introns 1 and 22 of the factor VIII gene are the most frequently observed mutations and account for most severe cases of hemophilia A” . Another type of mutation that may result in hemophilia is a point mutation. In this instance, a single nucleotide in the DNA is added, deleted, or changed. When these alterations take place, the amino acid chain is typically destroyed. Otherwise, the protein chain can disrupt protein function, inhibit intracellular processing, or result in protein clearance. Correct Answer: |
Scenario 1: Acute Lymphoblastic Leukemia (ALL)
Question 1: Explain what ALL is.
ALL is a type of blood and bone marrow cancer characterized by the production of too many lymphocytes by the bone marrow. The characteristic feature of ALL is chromosomal abnormalities and genetic changes involved in the differentiation and proliferation of lymphoid precursor cells (Malard & Mohty, 2020). The pathogenesis of ALL entails abnormal proliferation and differentiation of a clonal population of lymphoid cells. It is classified into L1, L2, and L3. L1 is the most common form found in children and has the best prognosis (Malard & Mohty, 2020). L2 is the most frequent ALL found in adults. L3 is the rarest form of ALL. Common symptoms include pallor, fatigue, weakness, fever, weight loss, abnormal bleeding and bruising, and lymphadenopathy.
KNOWLEDGE CHECK: PEDIATRICS NURS 6501 References
Malard, F., & Mohty, M. (2020). Acute lymphoblastic leukemia. Lancet (London, England), 395(10230), 1146–1162. https://doi.org/10.1016/S0140-6736(19)33018-1
Question 2: Why does ARF occur in some patients with ALL?
Acute kidney injury and acute renal failure (ARF) are documented complications of ALL. Kidney infiltration is prevalent in hematologic malignancies like ALL and occurs in 60-90% of patients. Rose et al. (2019) explain that acute kidney injury is seen in some patients with ALL and is caused by leukemic infiltration. Leukemic infiltrates are caused by uric acid nephropathy that results in renal enlargement and ARF. ARF in patients with ALL is considered to be caused by acute tubular compression and microvasculature disruption, causing acute tubular necrosis (Prada Rico et al., 2020). The symptoms linked with kidney infiltration secondary to ALL include flank pain, hematuria, and frothy urine.

References
Prada Rico, M., Rodríguez-Cuellar, C. I., Arteaga Aya, L. N., Nuñez Chates, C. L., Garces Sterling, S. P., Pierotty, M., González Chaparro, L. E., & Gastelbondo Amaya, R. (2020). Renal involvement at diagnosis of pediatric acute lymphoblastic leukemia. Pediatric reports, 12(1), 8382. https://doi.org/10.4081/pr.2020.8382
Rose, A., Slone, S., & Padron, E. (2019). Relapsed Acute Lymphoblastic Leukemia Presenting as Acute Renal Failure. Case reports in nephrology, 2019, 7913027. https://doi.org/10.1155/2019/7913027
Question 3: Explain the pathophysiology of acute SCD crisis. Why is pain the predominate feature of acute crises?
SCD crisis is characterized by a throbbing, sharp pain with a sudden onset. The common pain sites are joints, the lower back, and the extremities. Darbari et al. (2020) explain that the SCD crisis is a multifactorial process involving the occlusion of small blood vessels by sickled red blood cells and adherent blood cells. It also involves thrombosis, large-vessel intimal hyperplasia, and embolization of bone marrow fat, contributing to hypoxia, ischemia, and tissue inflammation and damage. The combination of hypoxia, ischemic tissue damage, and inflammation makes SCD crisis pain distinctive. Accumulation of sickled red blood cells and other adherent cells causes vaso-occlusion in smaller vessels without an inflammatory trigger (Jang et al., 2021). Furthermore, ischemia-reperfusion injury caused by microvascular occlusions leads to chronic inflammation through increased production of oxidants and increased leukocyte adhesion, which further causes SCD crisis and tissue damage.
References
Darbari, D. S., Sheehan, V. A., & Ballas, S. K. (2020). The vaso‐occlusive pain crisis in sickle cell disease: definition, pathophysiology, and management. European Journal of Hematology, 105(3), 237–246. https://doi.org/10.1111/ejh.13430
Jang, T., Poplawska, M., Cimpeanu, E., Mo, G., Dutta, D., & Lim, S. H. (2021). Vaso-occlusive crisis in sickle cell disease: a vicious cycle of secondary events. Journal of Translational Medicine, 19(1), 1–11. https://doi.org/10.1186/s12967-021-03074-z
Question 1
Not yet graded / 4 pts
Scenario 1: Acute Lymphoblastic Leukemia (ALL)
An 11-year-old boy is brought to the clinic by his parents who states that the boy has not been eating and listless. The mother also notes that he has been easily bruising without trauma as he says he is too tired to go out and play. He says his bones hurt sometimes. Mother states the child has had intermittent fevers that respond to acetaminophen.
Maternal history negative for pre, intra, or post-partum problems.
PMH: Negative. Easily reached developmental milestones.
PE: reveals a thin, very pale child who has bruises on his arms and legs in no particular pattern.
LABS: CBC revealed Hemoglobin of 6.9/dl, hematocrit of 19%, and platelet count of 80,000/mm3. The CMP demonstrated a blood urea nitrogen (BUN) of 34m g/dl and creatinine of 2.9 mg/dl.
DIAGNOSIS: acute leukemia and renal failure and immediately refers the patient to the Emergency Room where a pediatric hematologist has been consulted and is waiting for the boy and his parents.
CONFIRMED DX: acute lymphoblastic leukemia (ALL) was made after extensive testing.
Question
1. Explain what ALL is?
Your Answer:
Acute lymphocytic leukemia (ALL) is a kind of malignancy that affects the lymphoblasts of the B or T lymphoblasts. It is distinguished by the uncontrolled proliferation of aberrant and immature lymphocytes as well as their progenitors. This ultimately leads to bone marrow and other lymphoid organ replacement, resulting in a different disease pattern (Mo et al., 2019). Acute Lymphocytic Leukemia exhibits a higher incidence rate in males compared to females, and individuals of White ethnicity have a three-fold increased susceptibility to this condition as compared to those of Black ethnicity.
Patients diagnosed with acute lymphocytic leukemia frequently manifest symptoms of anemia, thrombocytopenia, and neutropenia as a result of the tumor’s replacement of the bone marrow. This is exemplified in the case of the 11-year-old patient. Possible symptoms may include fatigue, spontaneous bleeding or bruising, and susceptibility to infections. B-symptoms may frequently manifest, albeit with mild intensity. The symptoms denoted by den Boer et al. (2021) encompass pyrexia, perspiration during sleep, and inadvertent reduction in body mass. The participation of the central nervous system (CNS) is extensive and can be concomitant with cranial neuropathies or symptoms, primarily meningeal in nature, which are linked to heightened intracranial pressure.
References
den Boer, M. L., Cario, G., Moorman, A. V., Boer, J. M., de Groot-Kruseman, H. A., Fiocco, M., Escherich, G., Imamura, T., Yeoh, A., Sutton, R., Dalla-Pozza, L., Kiyokawa, N., Schrappe, M., Roberts, K. G., Mullighan, C. G., Hunger, S. P., Vora, A., Attarbaschi, A., Zaliova, M., &Elitzur, S. (2021). Outcomes of pediatric patients with B-cell acute lymphocytic leukemia with ABL-class fusion in the pre-tyrosine-kinase inhibitor era: a multicentre, retrospective, cohort study. The Lancet Haematology, 8(1), e55–e66. https://doi.org/10.1016/s2352-3026(20)30353-7
Mo, F., Ma, X., Liu, X., Zhou, R., Zhao, Y., & Zhou, H. (2019). Altered CSF Proteomic Profiling of Paediatric Acute Lymphocytic Leukemia Patients with CNS Infiltration. Journal of Oncology, 2019, 1–8. https://doi.org/10.1155/2019/3283629Links to an external site.
Question 2
Not yet graded / 4 pts
Scenario 1: Acute Lymphoblastic Leukemia (ALL)
An 11-year-old boy is brought to the clinic by his parents who states that the boy has not been eating and listless. The mother also notes that he has been easily bruising without trauma as he says he is too tired to go out and play. He says his bones hurt sometimes. Mother states the child has had intermittent fevers that respond to acetaminophen.
Maternal history negative for pre, intra, or post-partum problems.
PMH: Negative. Easily reached developmental milestones.
PE: reveals a thin, very pale child who has bruises on his arms and legs in no particular pattern.
LABS: CBC revealed Hemoglobin of 6.9/dl, hematocrit of 19%, and platelet count of 80,000/mm3. The CMP demonstrated a blood urea nitrogen (BUN) of 34m g/dl and creatinine of 2.9 mg/dl.
DIAGNOSIS: acute leukemia and renal failure and immediately refers the patient to the Emergency Room where a pediatric hematologist has been consulted and is waiting for the boy and his parents.
CONFIRMED DX: acute lymphoblastic leukemia (ALL) was made after extensive testing.
Question
1. Why does ARF occur in some patients with ALL?
Your Answer:
While renal failure is an infrequent initial manifestation in Acute Lymphoblastic Leukemia (ALL), renal participation is frequently observed. The manifestation of renal involvement can present itself in two ways, namely renal failure due to uric acid nephropathy or renal hypertrophy caused by leukemic infiltrates. In addition to the aforementioned factors, Snow et al. (2022) suggest that nephrotoxic medications, infections, and obstructive uropathy resulting from para-aortic lymph nodes, retroperitoneal masses, urolithiasis, or ureteral blockages may also play a role. It is uncommon for acute leukemia to present solely with uremic nephropathy without concurrent indications of malignancy.
The etiology of hyperuricemia in individuals without a significant tumor burden remains unclear. González-Gil et al. (2021) found that neoplasms exhibiting a high mitotic index may have a greater susceptibility to spontaneous lysis and cellular demise. Whilst any type of leukemia may result in the occurrence, lymphoblastic leukemia is the most frequent cause. In cases where leukemic infiltration is observed to be bilateral, diffuse, and predominantly impacting the cortical region, there exists a significant likelihood of severe impairment of renal function.
References
González-Gil, C., Ribera, J., Ribera, J. M., & Genescà, E. (2021). The Yin and Yang-Like Clinical Implications of the CDKN2A/ARF/CDKN2B Gene Cluster in Acute Lymphoblastic Leukemia. Genes, 12(1), 79. https://doi.org/10.3390/genes12010079Links to an external site.
Snow, Z., Jones, L. S., Piraino, J., & Sterling, M. (2022). Chronic lymphocytic leukemia/small lymphocytic lymphoma presenting as acute renal failure. The Canadian Journal of Urology, 29(1), 11036–11039. https://europepmc.org/article/med/35150229Links to an external site.
Question 3
Not yet graded / 4 pts
Scenario 2: Sickle Cell Disease (SCD)
A 15-year-old male with known sickle cell disease (SCD) present to the ER in sickle cell crisis. The patient is crying with pain and states this is the third acute episode he has had in the last 10-months. Both parents are present and appear very anxious and teary eyed. A diagnosis of acute sickle cell crisis was made.
Question
1. Explain the pathophysiology of acute SCD crisis. Why is pain the predominate feature of acute crises?
Your Answer:
Sickle cell disease is a hereditary disorder that is caused by a mutation in a gene, which follows an autosomal recessive pattern of inheritance. A substitution of nucleotide on chromosome 11 results in the replacement of glutamic acid with valine at position six of the beta-globin subunit. The physical characteristics of the globin chain undergo modification as a consequence. According to Kavanagh et al. (2022), multiple triggering factors induce the transformation of red blood cells in this manner. The risk factors encompass hypoxia, dehydration, exposure to cold or fluctuating weather, stress, and infections. The triggers mentioned above that lead to sickle cell disease in individuals with homozygous genotype result in the polymerization of hemoglobin, leading to the sickling of erythrocytes. There is an increase in the rigidity of erythrocytes.
The sickle-shaped and anomalous red blood cell engages with the endothelial cells as a result of the liberation of adhesion molecules. The occlusion of small vessels and consequent regional hypoxia are induced by the augmented adherence of erythrocytes, leading to the formation of heterocellular aggregates. This process is known to induce heightened HbS production, the discharge of inflammatory mediators, and the creation of free radicals, while also instigating reperfusion injury. Hemoglobin binding to nitric oxide (NO) results in the release of oxygen and a potent vasodilator. Elevated platelet activation, augmented nitric oxide binding, heightened neutrophil adhesiveness, and hypercoagulability are additional associated pathological consequences. Activated neutrophils induce additional microvascular obstruction. Plasma cytokines, which are a type of inflammatory mediator, facilitate the development of an inflammatory condition that exacerbates the consequences of vaso-occlusion. It is postulated that the gut microbiota may be a potential contributor to the occurrence of vaso-occlusive crises. Although some pain triggers such as cold temperatures, dehydration, low humidity, and stress are well-established, the majority of pain episodes remain unexplained.
The acute pain experienced in sickle cell disease (SCD) is attributed to three primary factors: Vaso-occlusive Crisis (VOC), diminished oxygen delivery, and tissue damage resulting from infarction-reperfusion. Hussain et al. (2020) have identified Tryptase-activated nociceptors and transient receptor potential vanilloid type 1 as instances of inflammatory cytokines in VOC. The secondary inflammatory response is initiated by tissue injury and leads to further tissue damage. Bradykinin is a pain mediator that is generated as a result of tissue damage. It collaborates with other cytokines to stimulate nociceptive afferent neurons, thereby inducing pain. Central sensitization and prolonged hyperalgesia following a vaso-occlusive crisis (VOC) are the primary factors contributing to chronic pain. Neuropathic pain can arise due to impairment of the central or peripheral nervous system, and the participation of protein kinase C may be implicated. The phenomenon of central sensitization pain may be associated with the activation of glial cells and neuroplasticity in the brain.
References
Hussain, F. A., Njoku, F. U., Saraf, S. L., Molokie, R. E., Gordeuk, V. R., & Han, J. (2020). COVID‐19 infection in patients with sickle cell disease. British Journal of Haematology, 189(5), 851–852. https://doi.org/10.1111/bjh.16734Links to an external site.
Kavanagh, P. L., Fasipe, T. A., &Wun, T. (2022). Sickle Cell Disease. JAMA, 328(1), 57. https://doi.org/10.1001/jama.2022.10233Links to an external site.
Question 4
Not yet graded / 4 pts
Scenario 2: Sickle Cell Disease (SCD)
A 15-year-old male with known sickle cell disease (SCD) present to the ER in sickle cell crisis. The patient is crying with pain and states this is the third acute episode he has had in the last 10-months. Both parents are present and appear very anxious and teary eyed. A diagnosis of acute sickle cell crisis was made.
Question
1. Discuss the genetic basis for SCD.
Your Answer:
Sickle-cell disease is a genetic anomaly that leads to the production of sickle hemoglobin, thereby affecting the physiological functioning of red blood cells within the human body. The inheritance of this mutation follows an autosomal recessive pattern from the parental generation to the offspring. The inheritance of the hemoglobin S gene, responsible for the production of abnormal hemoglobin and red blood cells, follows an autosomal recessive pattern whereby both parents must possess the gene mutation for it to be inherited by their offspring. According to Orkin and Bauer (2019), there is a 25% chance of inheriting two normal genes and being immune to genetic mutation and disease when both parents are asymptomatic genetic carriers of the condition. Irrespective of the potential impact on the couple’s previous offspring, there exists a constant probability that each child will inherit the genetic mutation. If one parent is affected, the child can inherit the sickle cell trait. In young children, single gene mutations often lead to asymptomatic and benign outcomes. Nonetheless, in the event of being paired with an individual who possesses the sickle cell trait, they become a carrier of the disorder and have the potential to transmit the complete ailment to their progeny.
According to Inusa et al. (2019), there exists a correlation between the genetic alterations implicated in the pathophysiology of sickle cell disease and the gene mutations associated with other disorders that involve faulty hemoglobin, such as thalassemia, hemoglobin C, hemoglobin D, and hemoglobin E. The presence of a Sickle hemoglobin gene mutation in one parent and a distinct hemoglobin-related mutation in the other parent increases the likelihood of a child inheriting two gene mutations and subsequently developing Sickle cell disease.
References
Inusa, B., Hsu, L., Kohli, N., Patel, A., Ominu-Evbota, K., Anie, K., &Atoyebi, W. (2019). Sickle Cell Disease—Genetics, Pathophysiology, Clinical Presentation, and Treatment. International Journal of Neonatal Screening, 5(2), 20. https://doi.org/10.3390/ijns5020020Links to an external site.
Orkin, S. H., & Bauer, D. E. (2019). Emerging Genetic Therapy for Sickle Cell Disease. Annual Review of Medicine, 70(1), 257–271. https://doi.org/10.1146/annurev-med-041817-125507Links to an external site.
Question 5
Not yet graded / 4 pts
Scenario 3: Hemophilia
8-month infant is brought into the office due to a swollen right knee and excessive bruising. The parents have noticed bruising about a month ago but thought the bruising was due to the attempts to crawl. They became concerned when the baby woke up with a swollen knee. Infant up to date on all immunizations, has not had any medical problems since birth and has met all developmental milestones.
FH: negative for any history of bleeding disorders or other major genetic diseases.
PE: within normal limits except for obvious bruising on the extremities and right knee. Knee is swollen but no warmth appreciated. Range of motion of knee limited due to the swelling.
DIAGNOSIS: hemophilia A.
Question
1. What is the pathophysiology of Hemophilia
Your Answer:
Hemophilia is a rare genetic bleeding disorder that arises due to the deficiency or dysfunction of coagulation protein factors. Calcaterra et al. (2020) have established that Hemophilia A and B are characterized by deficiencies and malfunctions of factor VIII (FVIII) and factor IX (FIX), respectively, at a pathological level. The disorders’ propensity to induce spontaneous and recurrent bleeding in the joints and soft tissues leads to progressive damage to the skeletal muscles. This injury may lead to hemophilic arthropathy, a condition that can impair joint mobility and performance. Individuals diagnosed with hemophilia may experience substantial hemorrhage due to either physical injury or medical procedures.
Hemophilia A and B are X-linked Mendelian disorders characterized by the absence of functional copies of the genes encoding for FVIII and FIX, respectively, resulting from mutations, deletions, or gene inversions. The genes responsible for coding FVIII and FIX are located on the elongated arm of the X chromosome. Any alterations in these genes lead to a decrease in protein production, activity, or both. According to Rodriguez-Merchan and Jimenez-Yuste (2022), a malfunctioning protein is responsible for hemophilia A in approximately 5-10% of patients. Despite being produced in these conditions, the functionality of the protein is compromised. Individuals diagnosed with hemophilia B exhibit elevated levels of dysfunctional protein, typically ranging between 40% to 50%.
References
Calcaterra, I., Iannuzzo, G., Dell’Aquila, F., & Di Minno, M. N. D. (2020). Pathophysiological Role of Synovitis in Hemophilic Arthropathy Development: A Two-Hit Hypothesis. Frontiers in Physiology, 11. https://doi.org/10.3389/fphys.2020.00541Links to an external site.
Rodríguez-Merchán, E. C., & Jiménez-Yuste, V. (2022). Pathophysiology of Hemophilia. Advances in Hemophilia Treatment, 1–9. https://doi.org/10.1007/978-3-030-93990-8_1Links to an external site.

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