Volume : III, Issue : VII, July - 2013

Awareness and Screening of ?–thalassemia trait in Sindhi community

Sangita S. Kunjwani, Dr. Zia H. Khan

Abstract :

β–thalassemia is one of the most common single gene inherited conditions in the world characterized by reduced synthesis or absence of β–globin chain which causes anemia. Three classes of β–thalassemia have been recognized, beta thalassemia major, intermedia and minor. β–homozygous (major) state present with variable degree of anemia, intermediate condition which may have either heterozygous or homozygous pattern of inheritance has a milder anemia, β–heterozygous cases (minor) are almost asymptomatic with normal or slightly reduced level of hemoglobin. β–homozygous cases have to take the lifelong treatment; management includes regular blood transfusion, chelation therapy for iron overload. It was an utter amusement that even after careful blood administration practices; the patient experiences many complications both immediate and long–term including osteoporosis, cardiac dysfunction, endocrine probems, hepatitis B, hepatitis C, HIV infection etc. due to continuous blood transfusion and iron overload. Some bitter truths about management, although it increases the life span of patient, it prolongs the pain of both the patient and the family. The cost of treatment is very much expensive and stem cell curative therapy is out of reach for most of families. Screening for genetic diseases aims to reduce the burden on the society. Therefore the main objective of this study was population screening of Sindhi Community to identify asymptomatic carriers of recessive conditions, so that they are informed and understand their reproductive risks and options. Carrier status was found to be 8.58%,13.33%,16.60%,11.23%,13.79% and 9.09% for Akola, Murtijapur, Nandura, Akot, Khamgaon and Karanja respectively, which was followed by counseling of carriers .Thus it was concluded that public awareness and preventive measures such as premarital screening and prenatal testing should be done to eliminate this fatal disorder.

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Article: Download PDF   DOI : 10.36106/ijar  

Cite This Article:

Sangita S.Kunjwani, Dr.Zia H.Khan Awareness and Screening of ?-thalassemia trait in Sindhi community Indian Journal of Applied Research, Vol.III, Issue.VII July 2013


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