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Test · Diagnostics

Carbepenem Resistance PCR

Free home sample collection, physician reviewed8 - 10 DaysReports inBloodSample

Beta-thalassemia (BT) affects about 1 in 100,000 people and is caused by a reduction or absence of the beta chain in hemoglobin, resulting in anemia. The phenotypes of the homozygous Î²-thalassemias include thalassemia major and thalassemia intermedia. Clinical presentation of thalassemia major occurs between ages six to 24 months. Affected infants fail to thrive and become progressively pale. Feeding problems, diarrhoea, irritability, recurrent bouts of fever, and progressive enlargement of the abdomen caused by splenomegaly may occur. Thalassemia intermedia present later and have milder anaemia that only rarely requires transfusion. Clinical features are pallor, jaundice, cholelithiasis, liver and spleen enlargement,moderate to severe skeletal changes, leg ulcers, extramedullary masses of hyperplastic erythroid marrow, a tendency to develop osteopenia and osteoporosis, and thrombotic complications resulting from iron accumulation and hypercoagulable state secondary to the lipid membrane composition of the abnormal red blood cells. The Î²-thalassemias are inherited in an autosomal recessive manner and can be caused by more than 200 different HBB mutations.

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