Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh 160012, India.
Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh 160012, India.
Clin Chim Acta. 2016 Jul 1;458:51-4. doi: 10.1016/j.cca.2016.04.020. Epub 2016 Apr 20.
Hereditary spherocytosis (HS) is a common inherited hemolytic anemia characterized by heterogeneous clinical presentations with variable degrees of anemia, jaundice, splenomegaly and gallstones. Although the underlying genetic defects in red cell membrane proteins may explain many phenotypic variations, a proportion of variability may be due to other co-inherited factors like enzymopathies, thalassemias and Gilbert syndrome. Associations of HS with glucose-6-phosphate dehydrogenase (G6PD) deficiency and Gilbert syndrome in isolation have been reported previously.
We describe 3 adult cases of HS with concomitant Gilbert syndrome and G6PD-Mediterranean mutations (2 hemizygous males, aged 15 and 35y and 1 heterozygous 25-y female).
Two patients required multiple transfusions that required splenectomy for management. One patient (15y male) also carried the single gene alpha 4.2 deletion and was less symptomatic.
These cases illustrate the importance of clinico-pathological correlation and judicious extended testing for various contributing factors that may modify the clinical course of HS patients. G6PD deficiency is also a common enzymopathy in India and can contribute to the phenotypic heterogeneity. Its recognition is important for advising avoidance of oxidizing drug exposure.
遗传性球形红细胞增多症（HS）是一种常见的遗传性溶血性贫血，其临床表现具有异质性，贫血、黄疸、脾肿大和胆石症的程度不一。虽然红细胞膜蛋白的潜在遗传缺陷可以解释许多表型变异，但一部分变异可能归因于其他共遗传因素，如酶病、地中海贫血和吉尔伯特综合征。以前曾有报道称 HS 与葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症和吉尔伯特综合征单独相关。
我们描述了 3 例成年 HS 合并吉尔伯特综合征和 G6PD-Mediterranean 突变的病例（2 例 15 岁和 35 岁的男性半合子，1 例 25 岁的女性杂合子）。
两名患者需要多次输血，需要脾切除术进行治疗。一名患者（15 岁男性）还携带单基因α4.2 缺失，症状较轻。
这些病例说明了临床病理相关性的重要性，以及对各种可能改变 HS 患者临床病程的因素进行明智的扩展检测的重要性。G6PD 缺乏症也是印度常见的酶病，可导致表型异质性。识别它对于建议避免接触氧化药物很重要。
