A Review on Red Blood Disorder: Thalassemia

Abstract

Thalassemia is classified as major (homozygous), minor (heterozygous) or intermedia (compound heterozygous). It’s diagnosed is based on hematological findings whereas molecular genetic analysis has also been gradually developed. Due to untreatable nature of thalassemia, it is important to adopt preventive measures. In this regard, the community awareness, carrier testing and genetic counselling are important milestones. Region-wise division of thalassemia mutations is diverse in distinct provinces. HBB: c.92+5G > C represents raised incidence in Balochistan and Sindh. HBB: c.27_28insG is most common in KPK and Punjab. Similarly, NG_000007.3: g.71609_72227del619 has its roots previously in India subsequently in Gujratis along with Memon community populating Sindh. Widespread family testing can employ DNA-based genomic analysis in areas where consanguine marriages are usual. An assessed carrier ratio for HBV (3-5%) along with (4-5%) for hepatitis C virus being found in Pakistan due to asymptomatic distribution. Bone marrow transplantation is the only solution to get rid from thalassemia major complications and this facility is accessible ever since 1999 in Pakistan.