Common types include hemoglobin SS, hemoglobin SC, hemoglobin Sβ+ thalassemia, and hemoglobin Sβ0 thalassemia. Skeletal changes that result from expansion of the bone marrow, including: Deformities of the long bones of the legs, Typical craniofacial changes (frontal bossing, malar prominence, depressed nasal bridge, tendency toward upslanted palpebral fissures, and hypertrophy of the maxillae, which tends to expose the upper teeth), In children, growth restriction and failure of sexual maturation, In adults, involvement of the heart (dilated cardiomyopathy), liver (fibrosis and cirrhosis), and endocrine glands (resulting in diabetes mellitus and insufficiency of the parathyroid, thyroid, pituitary, and, less commonly, adrenal glands), Chronic hepatitis (resulting from infection with the viruses that cause hepatitis B and hepatitis C), Cirrhosis (from iron overload and chronic hepatitis), Extramedullary masses of hyperplastic erythroid marrow, Thrombotic complications from iron accumulation and hypercoagulable state secondary to the lipid membrane composition of the abnormal red blood cells, Ophthalmologic and audiologic examinations, Complete cardiac evaluation, and evaluation of thyroid, endocrine pancreas, parathyroid, adrenal, and pituitary function, Liver ultrasound evaluation and determination of serum alpha-fetoprotein concentration in adults with hepatitis C and iron overload for early detection of hepatocarcinoma, Bone densitometry to assess for osteoporosis in adults, Monthly complete blood counts and tests for blood iron levels every three months, Yearly tests for heart function, liver function, and viral infections including hepatitis and HIV, Yearly tests to check for iron buildup in your liver, Regular checkups to make sure blood transfusions are working, Tests to match your tissues with a possible donor if a stem cell transplant is under consideration. Iron chelation therapy. Another complication is anemia hemochromatosis. 9. Coming soon! Bone marrow transplant. This type of hemoglobin is found in fetuses and newborns. If no beta … Both thalassemia major and thalassemia intermedia can cause more than just anemia. In Lebanon, beta-thalassemia is the predominant genetic defect. Initially, these complications may include feeding problems, diarrhea, irritability, recurrent bouts of fever, and progressive enlargement of the abdomen caused by splenomegaly. The Genetic Inheritance of Thalassemia. In a few cases, there may be reaction to the transfusion that could affect the lungs and heart or produce a fever. Most people affected by beta thalassemia … Thalassemia, group of blood disorders characterized by a deficiency of hemoglobin, the blood protein that transports oxygen to the tissues.Thalassemia (Greek: “sea blood”) is so called because it was first discovered among peoples around the Mediterranean Sea, among whom its incidence is high.Thalassemia … Dark urine, a sign that red blood cells are breaking down, Bone problems, especially with facial bones, Development of masses from extramedullary hematopoiesis. Because thalassemia can impact many bodily functions over time, there is also a concerted need to treat health complications from thalassemia as well. This is different from a dominant condition, in which only one copy of the gene need be changed in order to manifest symptoms. So, patients need repeated transfusions to maintain a healthy supply of red blood cells. Finally, living with thalassemia can be emotionally draining. Alpha-thalassemia is characterized by a deficit in the production of the α-globin chains of hemoglobin. It is also a single gene disorderwhere the mutation will only affect the expression of one specific gene as compared to a complex cluster of genes. If a person is only missing one gene, they are a "silent" carrier. Alpha thalassemia occurs when a mutation in the gene that codes for alpha globin results in reduced or absent production of alpha globins. What is a Haplotype? her family to have the condition. No matter your genetic makeup, maintain ideal blood pressure and glucose levels, avoid harmful alcohol intake, exercise regularly, get regular sleep. In beta thalassemia intermedia and trait this testing reveals elevati… When there are genetic counseling issues or when the diagnosis is unclear, DNA testing may be offered as illustrated in this flow diagram. Changes in these genes may lead to disorders of heme production, a group of conditions separate from the thalassemias. 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