![]() ![]() ![]() ![]() The clinical severity of the β-thalassemia syndromes depends on the extent of alpha globin chain / non-alpha globin chain (i.e., β+ γ) imbalance. ![]() The phenotypes of the homozygous β-thalassemias include thalassemia major and thalassemia intermedia. Pregnancy management: Women with thalassemia intermedia who have never received a blood transfusion or who received a minimal quantity of blood are at risk for severe alloimmune anemia if blood transfusions are required during pregnancy. Hematologic testing can be used if the pathogenic variants in the family are not known. In adults: bone densitometry to assess for osteoporosis serum alpha-fetoprotein concentration for early detection of hepatocarcinoma in those with hepatitis C and iron overload regular gallbladder echography for early detection of cholelithiasis for those at risk.Īgents/circumstances to avoid: Alcohol consumption, iron-containing preparations.Įvaluation of relatives at risk: If the pathogenic variants have been identified in an affected family member, molecular genetic testing of at-risk sibs should be offered to allow for early diagnosis and appropriate treatment. Surveillance: Thalassemia major: monitoring of the effectiveness/side effects of transfusion therapy and chelation therapy in affected individuals of all ages by monthly physical examination trimonthly assessment of liver function tests, determination of serum ferritin concentration, and evaluation of growth and development (during childhood) annual evaluation of eyes, hearing, heart, endocrine function (thyroid, endocrine pancreas, parathyroid, adrenal, pituitary), liver (ultrasound examination), and myocardial and liver MRI. Prevention of secondary complications: Assessment of iron overload through one or more of the following: serum ferritin concentration, liver biopsy, magnetic biosusceptometry, and MRI techniques prevention of transfusional iron overload with adequate iron chelation therapy (i.e., desferroxamine B, deferiprone, deferasirox) assessment of myocardial siderosis by MRI and monitoring of cardiac function treatment of osteoporosis, including consideration of bisphosphonate therapy. Symptomatic therapy based on splenectomy in most affected individuals, sporadic red cell transfusions in some, folic acid supplementation, and iron chelation. These individuals are at risk for iron overload secondary to increased intestinal absorption of iron as a result of ineffective erythropoiesis. Individuals with thalassemia intermedia present later and have milder anemia that does not require regular treatment with blood transfusion. Treatment with a regular transfusion program and chelation therapy, aimed at reducing transfusion iron overload, allows for normal growth and development and may improve the overall prognosis. Without treatment, affected children have severe failure to thrive and shortened life expectancy. Individuals with thalassemia major have severe anemia and hepatosplenomegaly they usually come to medical attention within the first two years of life. Penal codes may also be exclusive to some departments like fire, emergency services, and the like.Beta-thalassemia (β-thalassemia) is characterized by reduced synthesis of the hemoglobin subunit beta (hemoglobin beta chain) that results in microcytic hypochromic anemia, an abnormal peripheral blood smear with nucleated red blood cells, and reduced amounts of hemoglobin A (HbA) on hemoglobin analysis. Police scanner penal codes are formulated to keep communications fast and efficient. Under attack, immediate assistance required! Intensive attention: high hazard, business areas Office being followed by auto dangerous persons ![]()
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