Discussion w7-8 652

Q-1

Thalassemia is an inherited blood disorder that causes hemoglobin to be lower leading to anemia. The body doesn’t function properly without the proper amount of hemoglobin and it can be mild to severe. There are two main types of Thalassemia, alpha and beta. Beta thalassemia is caused by mutations in the HBB gene while alpha thalassemia is caused by mutations in the HBA1 or HBA2 genes and is linked to Mediterranean, African American, and Southeast Asian descents (Bajwa & Basit, 2021). It is inherited so there isn’t much prevention unless you do DNA analysis before procreating to see if you are carrier for the genes. Differential diagnoses to thalassemia are sickle cell anemia, iron deficiency anemia, hemolytic anemia, and folate deficiency.

Presentation/ Diagnostic

Beta thalassemia major presents within the first 2 years of life with poor growth with possible skeletal abnormalities and severe anemia that requires blood transfusions for life (Fibach & Rachmilewitz, 2017). Beta thalassemia minor might just present with minor symptoms

Alpha thalassemia can have up to 3 mutated genes with 1 mutated gene will have no symptoms, 2 mutated genes will have mild symptoms, and 3 mutated genes will have moderate to severe symptoms. If all 4 have defects then the embryo is not compatible with life and it is called hydrops fetalis (Bajwa, & Basit, 2021). The presentation varies depending on type and severity and the H&P would be the first place to start. You might see pallor or jaundice, fatigue, ulcerations, bronze skin, skeletal bone deformities (chipmunk face), arrhythmias, heart failure, hepatosplenomegaly, splenic infarcts, slower growth rate, endocrinopathies depending on where iron overload deposits to (Bajwa & Basit, 2021). Diagnostic tests would include CBC with peripheral smear, iron studies, DNA analysis are starting points to assess for thalassemia. The CBC would show low hemoglobin with low MCV and ruling out iron deficiency. The Mentzer Index can be calculated to help guide the diagnosis as it uses MCV divided by RBC count and if the results are less than 13 than the patient most likely has thalassemia.

Treatment

Treatment depends on severity of the disease and if they have mild thalassemia, they generally don’t require treatment and may occasionally need blood transfusions after stressful events. They will need a referral to a hematologist to manage their care. Patients might need an endocrinologist for growth delays or other endocrinopathies. Cardiologist, GI doctor, and Infectious disease specialists might need to be part of their care as well. Geriatric populations might need to monitor for arrhythmias, heart failure, etc.

Moderate to severe thalassemia requires more interventions such as blood transfusions every few weeks, chelation therapy, stem cell transplants, gene therapy, splenectomy, and cholecystectomy. The goal is to keep hemoglobin between 9-10mg/dL, and chelation therapy may be required to remove excess iron from the blood from frequent transfusions. Chelation therapy is needed to help maintain the patient’s health (Fibach & Rachmilewitz, 2017).

 

Bajwa H, Basit H. Thalassemia. [Updated 2021 Jan 24]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK545151/

 

Fibach, E., & Rachmilewitz, E. A. (2017). Pathophysiology and treatment of patients with beta-thalassemia - an update. F1000Research, 6, 2156. https://doi.org/10.12688/f1000research.12688.1

Q-2

The typical presentation of B12 deficiency anemia: It affects multiple systems, and it varies in severity from mild fatigue to severe neurologic impairment. Symptoms typically include easily fatigued with exertion, palpitation, and skin pallor, jaundice vitiligo, skin hyperpigmentation, glossitis, and infertility (Langan, & Goodbred, 2017). Neurologic manifestations include cognitive impairment, (dementia-like symptoms, acute psychosis), gait abnormalities, irritability, include peripheral neuropathy, areflexia can be permanent if complete neuronal death occurs, and the loss of proprioception and vibratory sense, olfactory impairment (Langan, & Goodbred, 2017).

Etiology of vitamin B12 deficiency anima: Includes gastric or small intestine resections, pernicious anemia, genetic transcobalamin deficiency, atrophic gastritis, alcohol abuse, worm infestations, inflammatory bowel disease, use of metformin for > 4 months, use of proton pump inhibitors or he receptor blockers for > 12 months, vegans or strict vegetarians and older adults older than 75 years.

Differential diagnosis: pernicious anemia, autoimmune gastritis, atrophic gastritis, Anemia of inflammation, drug-induced anemia, folic acid deficiency anemia, anemia of chronic disease, hyperhomocysteinemia, Dementia.

Typical diagnostic work-up, screening tools/diagnostic specific scales tools (if any): CBC, serum vitamin B12 level, serum methylmalonic acid level, Plasma bilirubin level, LDH level, serum erythropoietin levels, serum iron and ferritin levels, holotranscobalamin level, anti-intrinsic antibody, a schilling test to differentiate pernicious anemia from vitamin B12 deficiency anemia, intrinsic factor assay (Green, 2017).

Treatment plan- IM injection of cyanocobalamin 1 mg daily x 3 days per week x 2 weeks for patients without neurological deficits and every other day injections x 3 weeks or until no improvements are not noted or oral vitamin B12 therapy 1-2 mg daily (Langan, & Goodbred, 2017). If vitamin B12 deficiency coexists with folate deficiency, B12 should be replaced first to prevent subacute combined degeneration of the spinal cord (Langan, & Goodbred, 2017).

Preventative measures Consider screening patients for B12 deficiency if they are taking proton pump inhibitors and H2 receptor blockers for more than 12 months or metformin for more than 4 months. Encourage patients to take recommended dietary intake of B12 of 3.4 mcg/day and 2.4 mcg for men and non-pregnant women and 2.6 mcg for pregnant women and patients older than 5 years to consume food fortified with vitamin B12 (Langan, & Goodbred, 2017). Vegan and vegetarians should be counseled to consume fortified cereals or supplements to prevent deficiency and patients who had bariatric surgery take 1 mg of oral vitamin B12 /day indefinitely (Langan, & Goodbred, 2017).

Appropriate referrals: Referral to a nutritionist or dietician will be beneficial for choosing the daily dietary source and fortified food for older patients with vitamin B12 deficiency. If the etiology of the B12 deficiency is due to underlying malabsorption syndrome due to inflammatory bowel disease and GI consult is needed for the management. Alcohol abused patient’s referral to AA would benefits. Neurology referral to rule out any neurological cause for neurology symptoms.

Consideration in the geriatric population. Highlight differences in presentation of adult versus geriatric patients with this diagnosis.

Neurological deterioration is a part of aging and B12 deficiency not recognized or not treated or neglected. Dementia and other neurological symptoms are also more prevalent in the older populations vitamin B12 deficiency anemia needs to be ruled out from other anemias.

Reference.

Langan, R. C., & Goodbred, A. J. (2017). Vitamin B12 deficiency: recognition and management. American family physician, 96(6), 384-389. Retrieved from  https://www.aafp.org/afp/2017/0915/p384.html?fbclid=IwAR1RhiFot51fS2LnxaiRQoqeKdfE6YuTrB_BTHkWdQo494UuJG4D4orOITc#sec-1

Green, R. (2017). Vitamin B12 deficiency from the perspective of a practicing hematologist. Blood, 129(19), 2603-2611. Retrieved from https://ashpublications.org/blood/article/129/19/2603/36140/Vitamin-B12-deficiency-from-the-perspective-of-a

Q-3

Sickle cell disease (SCD) usually manifests early in childhood. The most common clinical manifestation of SCD is vaso-occlusive crisis. A vaso-occlusive crisis occurs when the microcirculation is obstructed by sickled RBCs, causing ischemic injury to the organ supplied and resultant pain. Pain crises constitute the most distinguishing clinical feature of sickle cell disease and are the leading cause of emergency department visits and hospitalizations for affected patients. Pain crises begin suddenly. The crisis may last several hours to several days and terminate as abruptly as it began. With repeated episodes in the spleen, infarctions and auto splenectomy predisposing to life-threatening infection are usual. The liver also may infarct and progress to failure with time. The diagnosis is confirmed when electrophoresis demonstrates the presence of homozygous HbS. Screening for hemoglobin S (HbS) at birth is currently mandatory in the United States. This method of case finding allows institution of early treatment and control (CDC, 2017).

The National Institutes of Health (2017) advises that optimal care for patients with sickle cell disease (SCD), including preventive care, is best achieved through treatment in clinics that specialize in the care of SCD. All patients with SCD should have a principal health care provider, who should either be a hematologist or be in frequent consultation with one. For sickle cell crisis, when the severity of the episode is assessable, self-treatment at home with bed rest, oral analgesia, and hydration is possible. Individuals with SCD often present to the emergency department after self-treatment fails. Anemia is usually well tolerated. Because of the high RBC turnover, folate stores are often depleted. Folic acid supplementation may raise the Hb level and support a healthy reticulocyte response. Women who are menstruating should be checked for coexisting iron deficiency and, if it is found, given iron supplements

Long-term follow-up is required for patients with SCD. This is a lifelong disorder. Educate all patients to recognize signs of infection, increasing anemia, and organ failure. Treat all infections, even trivial ones, very promptly and vigorously. Institute pain medication at the earliest symptoms of a vaso-occlusive crisis. Blood transfusion is indicated only in specific situations. These include acute chest syndrome, stroke, abnormal findings on transcranial Doppler (for stroke prevention), pregnancy, and general anesthesia. Currently median life expectancy of people with sickle cell disease is 42-47 in the US (CDC, 2017).

Centers for Disease Control and Prevention, (CDC) (2017). Sickle Cell Disease: Health Care Professionals: Data & Statistics. Centers for Disease Control and Prevention. Department of Health and Human Services. Retrieved from: http://www.cdc.gov/ncbddd/sicklecell/data.html.

National Institutes of Health (NIH) (2017). Introduction to Genes and Disease: Anemia, Sickle Cell. National Center for Biotechnology Information. Retrieved from: http://www.ncbi.nlm.nih.gov/books/NBK22238/.