Thalassemias: simple screening for hereditary anemias.
The most prevalent hemoglobinopathies in the world, thalassemias are hereditary microcytic anemias. Each year, 100,000 children throughout the world are born with thalassemia major, a fatal blood disease. Thalassemia minor is the carrier state for this catastrophic disease. Health practitioners can easily identify patients who may have thalassemia minor through evaluation of routine red-blood-cell indices, and diagnosis can be confirmed by Hgb A2 evaluation. Once individuals know they have thalassemia minor, a lifetime of unnecessary treatment for anemia can be avoided. Patient education should also include information about preconception counseling and partner screening. Recognition of the potential for congenital diseases and subsequent screening or referral are the responsibilities of all health care practitioners who see clients before and during their reproductive years.
Esposito
N W
NW
Columbia University School of Nursing, New York.
D000465:Algorithms; D000747:Anemia, Hypochromic / Q000175:diagnosis; D003937:Diagnosis, Differential; D004909:Erythrocyte Indices; D005817:Genetic Counseling; D006443:Hemoglobin A2 / Q000032:analysis*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D010353:Patient Education as Topic; D016742:Preconception Care; D013789:Thalassemia / Q000097:blood* / Q000235:genetics
D006443:Hemoglobin A2