Affiliation:
1. Department of Pediatrics, The University of Texas Health Science Center, MD Anderson Children’s Cancer Center, and the Gulf States Hemophilia and Thrombophilia Treatment Center, Houston, TX.
Abstract
Hemoglobinopathies are a heterogeneous group of inherited disorders resulting from mutations in the globin genes. Transmission is autosomal. There are 2 main types of hemoglobinopathies, one of which comprises disorders of decreased or absent production of a globin gene. These disorders are known as thalassemias. Structural abnormalities resulting from single amino acid substitutions comprise the second group of hemoglobinopathies. Although delineated by quantitative and qualitative characteristics, they are not mutually exclusive. Thalassemias can have qualitative defects, whereas other structural abnormalities may have quantitative defects. Collectively, they are one of the most common causes of nonimmune hemolytic anemias with various frequencies distributed throughout the world.
Publisher
American Academy of Pediatrics (AAP)
Subject
Pediatrics, Perinatology, and Child Health
Reference39 articles.
1. Molecular genetics of the human globin genes;Forget,2001
2. Molecular cloning and characterization of the human β-like globin gene cluster;Fritsch;Cell,1980
3. Inherited haemoglobin disorders: an increasing global health problem;Weatherall;Bull World Health Organ,2001
4. An overview of hemoglobinopathies and the interpretation of newborn screening results;Chandrakasan;Pediatr Ann,2013
5. Alpha thalassemia major—new mutations, intrauterine management, and outcomes;Vichinsky;Hematology (Am Soc Hematol Educ Program),2009