sickle cell thalassemia

sickle cell thalassemia

a double heterozygous anemia in which the genes for sickle cell and for thalassemia are both inherited. A mild form and a severe form may be identified, depending on the degree of suppression of beta-chain synthesis by the thalassemia gene. In the mild form, synthesis is only partially suppressed, and the red blood cells may contain from 25% to 35% normal hemoglobin A, along with a greater concentration of hemoglobin S. The clinical course is relatively mild. In the severe form, beta-chain synthesis is completely suppressed and only hemoglobin S appears in the red blood cells. The clinical course is generally as severe as in homozygous sickle cell anemia. See also hemoglobinopathy, hemoglobin S, hemoglobin SC disease.
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3-5] SCD comprises (1) sickle cell anemia (SCA)--this is the homozygous state (HbSS), one gene inherited from each of the parents; (2) sickle cell trait--this is the heterozygous state (HbAS), one gene from one parent is for HbS while other gene is for HbA; and (3) SCD (compound heterozygosity)--this term refers to all disease states in which at least one gene is of HbS that may be in combination with abnormal gene of [beta] thalassemia, a thalassemia, HbD, HbE, HbC, HbQ, or any other hemoglobinopathy and includes SCA, sickle cell thalassemia, or HbS-D and HbS-E disease.
Potential Causes of Gross Hematuria SIGNS AND SYMPTOMS POSSIBLE DIAGNOSES Hemoglobinuria hemolytic disorder Myoglobinuria, cramping, weakness rhabdomyolysis Abdominal mass Wilms' tumor, hydronephrosis, ectopic kidney (rare) Hemoglobinopathy sickle cell disease, sickle cell trait, sickle cell thalassemia Recent group A strep infection acute glomerulonephritis Recent upper respiratory tract IgA nephropathy infection Dysuria with or without urinary urinary tract infection, frequency hypercalciuria Renal colic nephrolithiasis, ureteropelvic junction obstruction Terminal hematuria/dysuria cystitis, urethritis Hypertension, edema, glomerular disease proteinuria, oliguria, low C3 Source: Dr.