Department of Biochemistry, Maharashtra University of Health Sciences, Nashik,
Mumbai, Maharashtra, India
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Hemoglobinopathy is defined as a blood disorder caused by a genetically determined change in the molecular structure of hemoglobin. Abnormalities of hemoglobin (Hb) synthesis are among the most common inherited disorders of man and can be quantitative (thalassemia syndrome) or qualitative (variant Hbs). Screening is a process used to identify individuals who are at high risk of having or of developing, a specific disease when compared with the general population. From the obstetrician’s point of view, prevention and control in pregnant women is one of the best ways to reduce the birth of severe thalassemia major infants. Three major aspects of prevention and control are carrier detection, genetic counseling and prenatal diagnosis. In India, beta thalassemia is the most common monogenic disorder. Unlike many other genetic disorders where couple at risk cannot be easily diagnosed, thalassemia and abnormal hemoglobin give a tremendous opportunity for effective control of birth. Screening in antenatal clinics is the best way to identify couples at immediate risk of having an affected child. This emphasizes the need for generating awareness in the population for early registration in antenatal clinics as well as among obstetricians to ask for a screening for β-thalassemia and other hemoglobinopathies along with other investigations which are done routinely.
Aims and Scope:
1.Screening of different populations for existing hemoglobinopathies 2.Reporting different kinds of Hemoglobinopathies 3.Clinical Biochemistry behind the genetic disorder 4.Simple laboratotry tests that detect these genetic disorders 5.Prenatal diagnostic methods for the detection of hemoglobinopathies in the fetus 6.educating the masses and spreading awareness regarding these totally preventable genetic disease 7.Lack of detection causes financial, psychological and mental trauma on the patient and their family 8.Complications due to blood transfusion 9.Complicatioms due to excessive Iron therapy 10.Hormonal disorders in patients of hemoglobinopathies