论文部分内容阅读
一、地中海贫血 (一)HbH病 1.临床 可有贫血、黄疸、肝脾肿大。 2.血液学 (1)血红蛋白降低或正常,网织红细胞增高或正常;(2)红细胞大小不匀,中心浅染及靶形红细胞;(3)MCH降低;(4)红细胞渗透脆性降低;(5)骨髓增生活跃,以红细胞为主。 3.生化检查 血红蛋白电泳出现HbH区带。 4.遗传 家系中可有HbH病患者。 5.有条件应做α/β肽链合成速率比,基因分析。 (二)β地中海贫血(不包括基因缺失δβ地贫和HPFH)
First, thalassemia (A) HbH disease 1. Clinical may have anemia, jaundice, hepatosplenomegaly. 2. hematology (1) reduced or normal hemoglobin, increased or normal reticulocytes; (2) uneven red blood cell size, central light-stained and target red blood cells; (3) decreased MCH; (4) decreased red cell osmotic fragility; 5) bone marrow hyperplasia, mainly to red blood cells. 3. Biochemical tests hemoglobin electrophoresis appeared HbH zone. 4. The genetic family may have HbH patients. 5. Conditions should be done α / β peptide synthesis rate ratio, gene analysis. (B) β-thalassemia (not including gene deletion δβ thalassemia and HPFH)