Blood Disorders essay paper
Blood Disorders essay paper
Acute Lymphoblastic Leukemia (ALL)
ALL is a type of cancer affecting the maturation of white blood cells. It is a result of replacement of normal hematopoietic cells in bone marrow malignancy (Terwilliger, et al, 2017). It is a common disorder in children and adults affecting around 800 people per year. signs and symptoms are fever, bleeding tendencies, blood clots, lymphadenopathy, petechiae, infections such as pneumonia, and anemia. Diagnostic tests that confirm ALL are complete blood count with differentials, coagulation profile, peripheral blood smear, bone marrow aspirate and biopsy, and the chemistry profile Blood Disorders essay paper
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Why Does Acute Renal Failure Occur In Some Patients With ALL?
Acute kidney injury is a rare presentation of acute lymphocytic leukemia. Renal failure can be a result of renal enlargement secondary to leukemic infiltrates or uric acid nephropathy (Casciani, et al, 2017). Treatment of acute lymphocytic leukemia is chemotherapy. The chemotherapeutic regimen causes tumor lysis syndrome that increases the risk for uric acid and calcium phosphate nephropathy.
Explain The Pathophysiology Of The Acute SCD Crisis.
SCD is the gene mutation of hemoglobin S (HbS). It causes significant morbidity and mortality to all patients suffering from the illness. Clinical presentation includes acute or chronic pain, anemia, bone pain, infections, dermatologic involvement, and pulmonary hypertension. Sickle cell crisis is a result of mutation of hemoglobin S. The HbS has reduced solubility and increased viscosity. Therefore, it alters the shape and the size of the red blood cells. The HbS becomes more viscous and sticky in the blood vessel hence blocking oxygen circulation (Shah, F., & Dwivedi, M. 2020). Increased production of hemoglobin S depletes the production of the normal hemoglobin. Low hemoglobin levels causes low circulation of oxygenated blood in the body, increased rate of infections, and anemia. Acute sickle crisis presents in form of vaso-occlusion, hemolytic crisis, splenic sequestration, acute chest syndrome, and aplastic anemia. These crises are due to sudden hypoxia and the production of the inflammatory cells. Blood Disorders essay paper
Why Is Pain The Predominant Feature Of Acute Crises?
Pain is a common clinical presentation in sickle cell crisis due to vaso-occlusive crisis. Vaso-occlusion is a result of the blocking of tiny blood vessels there reducing the flow of oxygen to the tissues. The red blood cells in sickle cell disease have altered and sticky membranes that increases its adherence to the lining of the blood vessel (Shah, F., & Dwivedi, M. 2020). Other triggers for the Vaso-occlusive crisis are inflammatory cells, infections, cold weather, and dehydration.
Discuss The Genetic Basis For SCD
Sickle cell disease is a disorder resulting from the mutation of a gene in chromosome 11. Hemoglobin beta mutates forming the abnormal version of hemoglobin known as hemoglobin S (Inusa, et al, 2019). This gene mutation can be an autosomal recessive disorder from both parents. The inherited gene copies contain instructions for hemoglobin S. the copies then encode hemoglobin S resulting in sickle cell disease.
What Is The Pathophysiology Of Hemophilia?
Hemophilia is a bleeding disorder that is life threatening. It is a result of the production of antibodies against the coagulation factors in the body (Melchiorre, et al, 2017). The coagulation factors are VIIa, FVIII, and IXa. The disease occurs in patients with a previous normal hemostatic state. They later develop antibodies against the FVIII clotting factors. The production of the antibodies against the coagulation factors leads to insufficient production of the thrombin factors in the coagulation cascade. Insufficient production of the clotting factors increases the bleeding tendencies, spontaneous bruising, and frequent muscle hematomas.
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. Blood Disorders essay paper
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? 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? QUESTION 3 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? 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. Blood Disorders essay paper
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A diagnosis of acute sickle cell crisis was made. Question 1. Discuss the genetic basis for SCD. 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 Blood Disorders essay paper
References
Casciani, P., Postorino, M., Rossi, F., Tripodi, S., Biagi, A., & Mercante, L. Renal Failure in a Patient with Ibrutinib Refractory Chronic Lymphocytic Leukemia. Ann Clin Case Rep. 2019; 4, 1749.
Inusa, B. P., Hsu, L. L., Kohli, N., Patel, A., Ominu-Evbota, K., Anie, K. A., & Atoyebi, W. (2019). Sickle cell disease—genetics, pathophysiology, clinical presentation and treatment. International Journal of Neonatal Screening, 5(2), 20.
Melchiorre, D., Manetti, M., & Matucci-Cerinic, M. (2017). Pathophysiology of hemophilic arthropathy. Journal of clinical medicine, 6(7), 63.
Shah, F., & Dwivedi, M. (2020). Pathophysiology and recent therapeutic insights of sickle cell disease. Annals of hematology, 99(5), 925-935.
Terwilliger, T., & Abdul-Hay, M. J. B. C. J. (2017). Acute lymphoblastic leukemia: a comprehensive review and 2017 update. Blood cancer journal, 7(6), e577-e577. Blood Disorders essay paper
