Hereditary spherocytosis and glucose-6-phosphate dehydrogenase deficiency

The first reported case of hereditary spherocytosis (HS) and glucose-6-phosphate dehydrogenase deficiency in a black is presented. The recent literature is reviewed, with emphasis on the frequency of multiple inherited RBC defects in this ethnic group. Despite a coexisting hemoglobinopathy or enzyme deficiency, HS can be diagnosed in most cases by the peripheral blood smear, osmotic fragility curve, and family history. The implications of the double RBC abnormality are discussed, stressing the importance of splenectomy in relieving the hemolytic component due to spherocytosis.     

Erythrocyte glucose-6-phosphate dehydrogenase and glutathione deficiency in sheep

Erythrocytes of 145 sheep representing six breeds were assayed for glucose-6-phosphate dehydrogenase. All sheep had erythrocyte glucose-6-phosphate dehydrogenase values similar to glucose-6-phosphate dehydrogenase deficient erythrocytes of man. Mean erythrocyte glucose-6-phosphate dehydrogenase levels ranged from 0.65 to 1.54 micromoles of reduced nicotinamide adenine dinucleotide phosphate per gram of hemoglobin per minute. Many of these sheep also had low levels and/or unstable reduced glutathione. Sheep with low levels of erythrocyte glucose-6-phosphate dehydrogenase and reduced glutathione were given large doses of oxidizing drugs or fed fresh fava beans to determine if they would develop intravascular hemolysis. No significant hemolysis was detected as a result of drug administration or fava bean ingestion.     

贵阳地区新生儿G6PD缺乏症分子筛查结果分析

目的：了解贵阳地区葡萄糖‐6‐磷酸脱氢酶（G6PD ）缺乏症的发生率及基因突变分布情况。方法选取新生儿脐血DNA样本515例,采用基质辅助激光解吸／电离飞行时间质谱系统检测G6PD基因15种突变类型和1种多态位点。结果515份样本检出G6PD基因突变10例,检出率为1．94％。检出5种突变类型：1388G＞ A 4例（40．0％）,1024C＞ T 和519C＞ T各2例（20．0％）,1376G＞ T和95A＞G各1例（10．0％）。多态位点1311C＞T的等位基因频率为12．79％。结论贵阳地区是G6PD缺乏症的高发区,1388G＞A是该地区最常见的G6PD基因突变类型。     

葡萄糖-6-磷酸脱氢酶缺乏对中性粒细胞的影响

目的：探讨我国常见葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏对外周血中性粒细胞内酶活性及产生活性氧能力的影响。方法：检测正常人及G-6-PD缺乏患者外周血中性粒细胞G-6-PD活性、mRNA表达水平及其在静止与应激状态下产生活性氧的能力(NBT试验)。结果：G-6-PD缺乏患者外周血中性粒细胞内G-6-PP酶活性较正常人显著下降，mRNA表达水平上升，产生活性氧的能力(NBT还原试验)在静止状态下较正常白细胞高，但无统计学意义，在脂多糖(LPS)刺激下低于正常白细胞。结论：我国常见的G-6-PD缺乏能使中性粒细胞G-6-PD活性、应激状态下产生活性氧的能力下降。     

Prevalence of beta-thalassemia trait and glucose-6-phosphate dehydrogenase deficiency in Iranian Jews

BACKGROUND: beta-thalassemia is the most common inherited single gene disorder worldwide, and glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme deficiency. The goal of this study was to compare the frequency of beta-thalassemia trait and G6PD among the Moslem and Jewish populations in Shiraz, southern Iran. METHODS: We examined 201 Moslems and 187 Jewish subjects who were selected by random sampling. For diagnosis of thalassemia, complete blood count and hemoglobin electrophoresis were carried out and for G6PD deficiency, fluorescent spot test methods were used as a screening test. RESULTS: Among Moslem subjects, 14 cases (7.0%) were diagnosed as carriers of beta-thalassemia minor, whereas no carriers were detected among Jewish subjects. Seven Moslems (7%) and eight Jewish subjects (7.5%) were found to have G6PD deficiency. Among both groups the most common mutation was the Mediterranean type (563 C>T). In one Moslem subject, the detected mutation was 1003 (G>A) and in two Jewish subjects the mutations were 1376 (G>T) and G6PD A-. CONCLUSIONS: Whereas the frequency of beta-thalassemia minor among Moslems is higher than in the Jews in Shiraz, the frequency of G6PD deficiency was not significantly different in the two populations. These findings suggest that obligatory premarital beta-thalassemia screening for Jews in the community is not necessary, whereas neonatal screening for G6PD could be useful for both Jews and Moslems.     

The detection of glucose-6-phosphate dehydrogenase deficiency in mediterraneans by comparative quantitative enzyme electrophoresis.

Glucose-6-phosphate dehydrogenase (G6PD) can be easily isolated from haemolysates by cellulose acetate electrophoresis, and heterozygous (as well as hemizygous and homozygous) G6PD deficiency can be readily detected if the activity of the enzyme is determined densitometrically after electrophoresis and expressed as a ratio of the activity of a second enzyme, 6-phosphogluconate dehydrogenase (6PGD), which is isolated at the same time and whose activity is similarly determined. A method is presented here, together with the results of a recent survey in which 400 babies of Greek origin were tested for G6PD deficiency by the method. An overall incidence of 4-3% was found in the group; 2-9% of the males were completely G6PD deficient and 5-2% of the females were heterozygous for the deficiency.     

新生儿G-6-PD缺乏症高未结合胆红素血症的心肌损害

目的 探讨新生儿G-6—PD缺乏症的高未结合胆红素血症对心肌损害。方法 30例G—6-PD缺乏症新生儿分别于入院时(治疗前)和治疗后(显性黄疸消退后)抽血测定心肌酶、肝功能、肾功能等,部分病人同时作心电图检查,并与15例正常新生儿进行比较。结果 30例G—6—PD缺乏症患儿心肌酶及同功酶活性均有不同程度增高,尤以CK—MB活性明显升高,两组比较差异有非常显著意义(P<0.01)。CK—MB升高与黄疸程度呈正相关(r=0.487、P<0.01)。治疗前后,高未结合胆红素心肌酶比较、差异有非常显著意义(P<0.01)。结论 新生儿高未结合肥红素血症可出现心肌损害,与黄道出现程度有关。     

Clinical significance of glucose-6-phosphate dehydrogenase deficiency in Nigerian patients with sickle cell disease

A total of 75 (45 males, 30 females) patients with sickle cell disease (SCD) at the university of Maiduguri Teaching Hospital were screened for G-6-PD deficiency and their steady state levels of haematocrit, reticulocyte count and irreversibly sickled cells (ISC) as well as the occurrence of vaso-occlusive crises were analysed with respect to their G-6-PD status during a 3 year period (1998-2000). None of the female patients was G-6-PD deficient, while (15.6%) male patients had the enzyme deficiency. The patients with G-6-PD deficiency had significantly lower mean level of haematocrit (0.221/l) with higher level of reticulocyte count (15%) as compared to their non-G-6-PD deficient counter parts who had mean values of 0.271/l and 9% for haematocrit count respectively. However, there was no significant difference in mean levels of ISC between G-6-PD deficient (6%) and non-G-6-PD deficient (5%) patients with SCD. Patients with G-6-PD deficiency had significantly lower episodes of vaso-occlusive crises (2.1 episodes/patient). This data would suggest that co-inheritance of G-6-PD deficiency in SCD reduces frequency of crises and improves prognosis.