遗传性球形红细胞增多症诊断的研究进展

遗传性球形红细胞增多症（HS）是最常见的遗传性红细胞膜缺陷疾病.HS在临床特征、膜蛋白缺陷及遗传方式上异质性明显,易造成漏诊和误诊.目前,该病的诊断进展主要集中在提高球形红细胞和膜缺陷细胞检出的灵敏度和特异度上,但尚无单一指标可以确诊所有HS.伊红-马来酰亚胺结合试验联合酸化甘油溶解试验是灵敏度最高的组合试验,可以检出轻型和代偿良好的HS.血象参数分析、血涂片等检查有利于早期筛查HS.现就HS的历史起源,发病率,膜蛋白缺陷与临床的关系,实验室检查的最新进展,综述如下.     

Familial short fifth metacarpals and insulin resistance

Very few reports on the phenotype of short fifth metacarpals have been published in the medical literature. We report a Jordanian family in which three sisters aged 15, 13 and 8 years revealed bilateral shortening of the fifth fingers and radiological shortening of the fifth metacarpals. The father had unilateral short fifth metacarpal. The elder two sisters, their father as well as their brother and another sister manifested insulin resistance. Spherocytosis was diagnosed in one of the girls and her father. The parents are non-consanguineous. This constellation of findings has not been previously reported and could point to the presence of two disorders segregating in the family or to a novel syndrome with autosomal dominant inheritance and variable expressivity.     

Red blood cell indexes in patients in patients with hereditary spherocytosis and beta-thalassemia combination

The spontaneous occurrence of hereditary spherocytosis (HS) and β-thalassemia in the same patient is a rare event. The mean corpuscular hemoglobin concentration is elevated above the reference range in half to two-thirds of patients with HS, but there are no data for the HS/ β-thal combinations for the red blood cell indexes. This study reassessed these values in these particular patients. Hemoglobin, hematocrit, mean corpuscular volume (MCV), mean corpuscular hemoglobin concentration (MCHC), red cell distribution (RDW), and reticulocyte count were documented from 43 HS patients, 13 of which were from 10 families with the combination of β-thal and HS; 28 controls were also included. Patients with HS/ β-thal have a significantly lower MCV, mean corpuscular hemoglobin, and MCHC and a significantly higher RDW than normal control subjects; 95% of β-thalassemia carriers are free of clinical symptoms. When red blood cell indexes reveal a possibility of a β-thalassemia carrier state with the symptoms of hemolytic anemia, HS should be considered.     

流式细胞术检测伊红-5′-马来酰亚胺标记红细胞在80例遗传性球形红细胞增多症中的诊断价值

目的 探讨伊红-5′-马来酰亚胺(EMA)为标记流式细胞术检测遗传性球形红细胞的灵敏性和特异性,并对试剂和样本稳定性进行验证.方法 对80例遗传性球形红细胞增多症(HS)和44例非HS患者外周血样本全部采用EMA标记流式细胞术检测、红细胞渗透脆性试验和酸化甘油溶解试验三种方法进行检测,比较三种方法的灵敏性和特异性,探讨EMA标记流式细胞术检测的可行性.并观察EMA及样本在不同储存条件下的稳定性.结果 通过检测124例样本得出,EMA标记流式细胞术检测的灵敏性和特异性分别为0.925和0.954,红细胞渗透脆性试验分别为0.950和0.455,酸化甘油溶解试验为1.000和0.318.红细胞渗透脆性试验和酸化甘油溶解试验的灵敏性稍高于EMA流式检测方法,但特异性差,不能明确区分球形红细胞增多是否为HS.EMA对温度很敏感,-80℃储存180 d较4℃存储1d稳定.HS样本的稳定性较好,4℃放置6d、室温条件放置3d不会影响结果的判定.结论 EMA标记流式细胞术检测HS具有良好的灵敏性和特异性,-80℃储存EMA较为稳定,须在样本4℃放置6d内、室温条件放置3d内完成检测.     

遗传性球形红细胞增多症红细胞膜粘弹性与膜蛋白巯基含量的实验研究

本文采用微管吸吮实验技术（Ｍｉｃｒｏｐｉｐｅｔｔｅ　Ａｓｐｉｒａｔｉｏｎ　Ｔｅｃｈｎｉｑｕｅ）研究遗传性球形红细胞增多症（Ｈｅｒｅｄｉｔａｒｙ　Ｓｐｈｅｒｏｃｙｔｏｓｉｓ，ＨＳ）患者红细胞膜的粘弹特性，并结合生化方法分析了红细胞膜蛋白的巯基含量。结果表明：ＨＳ 患者红细胞膜的弹性模量和正常对照组比较无明显差异而粘性系数显著高于正常值，细胞粘滞性增大，变形能力降低。Ｈ Ｓ患者红细胞膜蛋白的巯基含量显著低于正常值。这一结果提示ＨＳ患者红细胞膜蛋白的硫基基团发生了明显的修饰和支联，影响了膜了粘弹特性，这种修饰和交联可能是ＨＳ患者的分子病理机制之一。     

Spherocytosis preceding the development of myelodysplasia

We report two patients with prominent spherocytosis in the peripheral blood who later went on to develop myelodysplasia. There was no evidence of a myelodysplastic syndrome at the time of presentation. Morphological abnormalities of the peripheral blood along with possible explanations of spherocytosis are discussed.     

Results after laparoscopic partial splenectomy for children with hereditary spherocytosis: Are outcomes influenced by genetic mutation?

Background

Laparoscopic partial splenectomy (LPS) theoretically maintains long-term splenic immune function for children with hereditary spherocytosis (HS). Our goal was to review our results after LPS and to determine if specific genetic mutations influence outcome.

Hematologically important mutations: ankyrin variants in hereditary spherocytosis

The primary defect in the hereditary spherocytosis (HS) syndromes is a qualitative or quantitative alteration in one or more erythrocyte membrane proteins. Mutation of the erythrocyte membrane protein ankyrin are the most common cause of typical, dominant HS. Ankyrin mutations also cause nondominant spherocytosis due to ankyrin gene promoter or de novo mutations. In most cases, HS-related ankyrin mutations are private. A summary of reported HS-associated ankyrin gene mutations is provided in this report.     

遗传性球形红细胞增多症合并重度肝内胆汁淤积和继发性血色病

一、病例资料 病例1:男性患者,23岁.主因眼黄16年,加重伴皮肤黄染1月余于2008年6月27日10:00入院.患者缘于16年前无明显诱因出现眼黄,无恶心、呕吐、腹胀、腹泻、于当地医院查肝功能异常,应用保肝药物1个月后停药.     

Hereditary spherocytosis associated with mutations in HFE gene

We report on a Spanish family in which three members of different generations were diagnosed with hereditary spherocytosis (HS). Additionally, one of them II-I (44-years-old), presented iron overload with hepatic deposit and needed treatment with periodic phlebotomies. The rest of the family members presented normal analytical values in iron metabolism. To investigate the presence of H63D and C282Y mutations in the HFE gene, patient II-I was found to be compound heterozygous and was the only family member presenting HS and this genetic condition in HFE. We propose a synergistic effect of HS and mutations in HFE as the cause of the iron deposits.