RESUMEN
The present survey, which involves 70 sickle cell anemia patients from Gujarat and Maharashtra revealed a high prevalence of the typical Arab-Indian haplotype (91.5 %). Six atypical haplotypes, including a Cameroon one were also found. Correlation of these various haplotypes with HbF expression was studied.
Asunto(s)
Anemia de Células Falciformes/epidemiología , Anemia de Células Falciformes/genética , Globinas/genética , Haplotipos/genética , India/epidemiología , Familia de Multigenes/genética , Análisis Mutacional de ADN , Femenino , Hemoglobina Falciforme , Humanos , Masculino , Polimorfismo de Longitud del Fragmento de RestricciónRESUMEN
beta-Thalassemia (thal) is an autosomal recessive disorder with a prevalence of 2-3% in Indians, while hemophilia A is X-linked with a prevalence of 1 in 5,000-10,000 male births. The chances of both these disorders being present together is extremely rare (1 in 250,000). We report an interesting consanguineous family from Western India with a combination of these two disorders, which was referred to us for prenatal diagnosis.
Asunto(s)
Hemofilia A/diagnóstico , Diagnóstico Prenatal , Talasemia beta/diagnóstico , Familia , Femenino , Hemofilia A/complicaciones , Hemofilia A/epidemiología , Humanos , India , Masculino , Embarazo , Prevalencia , Talasemia beta/complicaciones , Talasemia beta/epidemiologíaRESUMEN
Prenatal diagnosis of beta-thalassemia is now ideally done in the first trimester of pregnancy by chorionic villus tissue DNA analysis. Nevertheless, fetal blood analysis in the second trimester is required either when the mutation in both parents cannot be characterised or when the couple comes late for investigations. We evaluated the usefulness of analysis of fetal blood on the Biorad Variant Hemoglobin Testing System using the beta-thalassemia short programme in comparison with the conventional globin biosynthesis in 58 pregnancies. The beta/alpha biosynthesis ratios in 13 homozygous fetuses ranged from 0 to 0.03 and the adult hemoglobin (HbA) levels by automated chromatography varied from 0% to 0.4%. The normal or heterozygous fetuses had beta/alpha ratios of >0.04 and HbA levels ranging from 2.1% to 10.6%. In 17 fetuses we also correlated the beta gene mutations with the predicted genotypes using automated high-performance liquid chromatography (HPLC). Follow-up of 18 unaffected fetuses using the Variant System at birth showed a significant increase in HbA levels.