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Chapter-11 The Hemoglobinopathies

BOOK TITLE: Essentials of Human Genetics

Author
1. Purandarey Hema
ISBN
9788184485356
DOI
10.5005/jp/books/10279_11
Edition
2/e
Publishing Year
2009
Pages
13
Author Affiliations
1. Nicholas Piramal Group of Laboratories, Mumbai, India, Birth Defects Center, Mumbai, Maharashtra, India, Centre for Genetic Health Care, SRL Diagnostic Services Private Limited (Genetics), Mumbai, Maharashtra, India, Medgenome Centre for Genetic Healthcare, Mumbai, Maharashtra, India
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Abstract

Hemoglobinopathies are caused by defects in the hemoglobin genes which in turn produce abnormal hemoglobins and anemia. Abnormal hemoglobins can be due to structural defects in the hemoglobin molecule due to mutations, for example causing sickle cell disease; mutations causing hemoglobin chain imbalance due to decreased production of a hemoglobin subunit or abnormal associations of subunits for example in thalassemia. Hemoglobinopathies are associated with high mortality and morbidity worldwide. Population screening and prenatal diagnosis in early pregnancy can be carried out for the hemoglobinopathies.

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