Molecular study and genotype/phenotype correlation of β Thalassemia in Malaysia

Introduction: To study the ß‐gene mutations spectrum, the genotype/phenotype correlation, the modulatory effect of co‐inherited factors such as α‐gene mutations and of Xmn1 polymorphism in a large cohort of Malaysian patients. Methods: A total of 264 cases clinically diagnosed as Thalassemia major (TM) (111), Thalassemia intermedia (21), HbE‐β Thalassemia (131), and 1 HbE homozygous were studied. The detection of α and ß gene mutations and characterization of Xmn1 polymorphism were performed by multiplex PCR, amplification refractory mutation system (ARMS), DNA sequencing, and restriction fragment length polymorphism (RFLP)‐PCR. Results: A total of 19 ß Thalassemia mutations were characterized. CD26 and CD41/42 were the most common found in the Malay and Chinese population, respectively. The sensitivity of the clinical diagnosis for β TM, thalassemia intermedia, and HbE/β thalassemia was 94.0%, 15.2%, and 89.2%, respectively. Patients with Xmn1 heterozygosity [+/?] required less frequent transfusion compared with those without the polymorphism. Co‐inheritance of α‐thalassemia alleviates the severity of HbE‐β thalassemia in our cohort. Conclusion: Molecular analysis should be used for a better diagnosis and management of β thalassemia.     

123例重型β地中海贫血患儿输血治疗状况的调查

目的了解重型β地中海贫血患儿的输血治疗状况,以指导对重型β地中海贫血患儿家庭的健康教育及人文关怀。方法调查123例重型β地中海贫血患儿第1次输血治疗时的年龄、每次启动输血时的血红蛋白(Hb)值、每次输血治疗剂量、持续输血治疗时间、已输血总量及终止输血治疗情况。结果 123例重型β地中海贫血患儿第1次输血时的年龄在0~3岁者118例,3~18岁者5例;第1次启动输血时的Hb均值为(53.23±12.61)g/L;15例患儿只接受过1次输血治疗,108例接受多次输血治疗的患儿启动输血治疗时的Hb均值为(75.15±14.24)g/L,其中接受持续规范输血治疗者仅36例(29.3%);123例患儿在调查的6年间平均持续输血治疗时间为645 d,平均输注红细胞总量38.96 U;持续接受输血治疗的患儿年均输血量在9岁以前随年龄的增长而逐年增加,在9岁以后反而呈下降的趋势;123例重型β地中海贫血患儿中已终止输血者47例,终止输血时的年龄在10岁以内者42例,超过10岁5例,6岁以内的患儿年龄越小终止输血治疗的比率越高。结论多数重型β地中海贫血患儿没能接受持续规范的输血治疗,有必要对重型β地中海贫血患儿的家庭进行正确的健康教育及人文关怀,指导、帮助重型β地中海贫血患儿接受规范的输血治疗,以提高患儿的生存期及生存质量。     

探讨孕妇妊娠晚期不同类型贫血患者相关指标差异

目的：分析不同类型贫血孕妇妊娠晚期相关指标的差异,分析原因和应对方法。方法以2011年3月-2012年3月间定期在该院产检的200例孕妇为对象,α地贫55例（甲组）,β地贫40例（乙组）,HBG在100~110 g/L的46例（丙组）, HBG≥110 g/L的59例（丁组）,检测所有患者的血红蛋白、血清维生素B12、血清铁蛋白、血清叶酸,对各项指标进行统计学分析。结果甲乙两组分别有16.4%和72.5%的患者表现为贫血,且甲组HGB高于乙组,差异有统计学意义（P〈0.05）。 SF比较各组间数据差异有统计学意义（P〈0.05）。结论轻型地中海贫血不会增加晚期妊娠妇女的铁负荷,β地中海贫血低HGB水平多于α地中海贫血区,这些孕妇应当高度重视铁的补充。     

重庆市璧山区孕期人群地中海贫血流行病学研究

目的：探讨重庆市璧山区孕妇产前地中海贫血筛查状况。方法采集孕妇外周静脉血作血红蛋白成分分析,进行产前地中海贫血筛查,对怀疑地中海贫血的孕妇及其丈夫进行基因诊断检查。结果对2100名孕妇进行地中海贫血筛查,筛查阳性94例,筛查阳性率4．48％。其中,进行基因诊断而确诊地中海贫血者68例,阳性率为72．34％,占总筛查孕妇比例为3．24％。对94例孕妇的配偶均建议行地中海贫血基因检测,其中基因异常者8例,阳性率为8．51％。结论强化孕妇地中海贫血筛查,可避免重型地中海贫血患儿活产。     

重视儿童非恶性血液病的诊治与研究

文章针对目前儿童血液病诊治研究领域可能存在的问题,对近年来中华儿科分会血液学组提出的包括缺铁性贫血、免疫性血小板减少症、血友病、β地中海贫血和再生障碍性贫血等儿童非恶性血液病诊疗建议或指南,进行简要解读与认真推荐.     

Alpha thalassemia among sickle cell anaemia patients in Kampala,Uganda

Background

Sickle cell anaemia is prevalent in sub Saharan Africa. While α+-thalassaemia is known to modulate sickle cell anaemia, its magnitude and significance in Uganda have hitherto not been described.

Objectives

To determine the prevalence of α+thalassaemia among sickle cell anaemia patients in Mulago Hospital and to describe the clinical and laboratory findings in these patients.

Methods

A cross sectional study was carried out on patients with sickle cell anaemia in Kampala. Dried blood spots were used to analyze for the deletional α+ thalassaemia using multiplex polymerase chain reaction.

Results

Of the 142 patients with sickle cell anaemia, 110 (77.5%) had the αα+thalassaemia deletion. The gene frequency of (−α) was 0.425. Ninety one percent (100/110) of those with α+thalassaemia were heterozygous (αα/α-). Amongst the patients older than 60 months, 15 (83.3%) of those without αα+thalassaemia had significant hepatomegaly of greater than 4 cm compared to 36 (45.6%) of those with α+thalassaemia (p=0.003).

Conclusion

The gene frequency of (−α) of 0.425 noted in this study is higher than that reported from many places in Africa. Concurrent alpha thalassemia might be a protective trait against significant hepatomegaly in sickle cell anaemia patients more than 60 months of age at Mulago hospital.