Boyd A S
Texas Tech University Health Sciences Center, Lubbock.
Am Fam Physician. 1989 Feb;39(2):167-72.
Hereditary spherocytosis is the most common inherited anemia in persons of northern European descent. In 75 percent of cases, the condition is inherited in an autosomal dominant fashion. Patients usually present with splenomegaly, jaundice and anemia. A deficiency of the cytoskeletal protein spectrin is believed to underlie this hemolytic state. Affected individuals display a tendency to form pigmented (bilirubin) gallstones. Splenectomy may be essentially curative in the majority of patients.
遗传性球形红细胞增多症是北欧血统人群中最常见的遗传性贫血。在75%的病例中,该病以常染色体显性方式遗传。患者通常表现为脾肿大、黄疸和贫血。细胞骨架蛋白血影蛋白的缺乏被认为是这种溶血状态的基础。受影响的个体有形成色素性(胆红素)胆结石的倾向。脾切除术对大多数患者可能具有根治性。