The inherited haemoglobinopathies are large group of disorders that include the thalassaemias and sickle cell disease. Carrier detection methods must be able to detect alpha-, beta- and deltabeta-thalassaemias, HPFH disorders and haemoglobin variants. Carrier diagnosis involves the accurate measurement of MCH, MCV, Hb A(2) and Hb F values in combination with an understanding of the haematological characteristics of the different types of thalassaemia genes and their interactions. The majority of the common thalassaemia mutations and abnormal haemoglobins can be identified by PCR-based techniques. The main applications of molecular analysis for carrier diagnosis are: the analysis of alpha-thalassaemia mutations by gap-PCR to discriminate between heterozygous alpha-thalassaemia and homozygous alpha-thalassaemia; the identification of beta-thalassaemia mutations for patients requiring prenatal diagnosis and for the prediction of the severity of the clinical phenotype of homozygous beta-thalassaemia; to discriminate between deltabeta-thalassaemia and HPFH deletions by gap-PCR.

中文翻译：

---

血红蛋白疾病的筛查和遗传诊断。

遗传的血红蛋白病是包括地中海贫血和镰状细胞病在内的一大类疾病。携带者检测方法必须能够检测出α，β和δ地中海贫血，HPFH疾病和血红蛋白变异。携带者诊断包括对MCH，MCV，Hb A（2）和Hb F值的准确测量，以及对不同类型地中海贫血基因的血液学特征及其相互作用的理解。多数常见的地中海贫血突变和异常的血红蛋白可以通过基于PCR的技术进行鉴定。分子分析在载体诊断中的主要应用是：通过间隙PCR分析α地中海贫血突变，以区分杂合的α地中海贫血和纯合的α地中海贫血。为需要产前诊断的患者鉴定β-地中海贫血突变并预测纯合β-地中海贫血的临床表型的严重性；通过gap-PCR区分δ-地中海贫血和HPFH缺失。