GeneReviews Updates Alpha-Thalassemia Clinical Guide
GeneReviews published an updated reference on alpha-thalassemia by Tamary, Greenberg-Kushnir, and Dgany. The disorder has two main forms. Hemoglobin Bart hydrops fetalis syndrome results from deletion or inactivation of all four alpha globin alleles and causes prenatal onset of severe anemia, generalized edema, and heart failure. Death usually occurs during embryonic life or in the neonatal period without treatment. Hemoglobin H disease, caused by deletion or inactivation of three alpha globin alleles, shows a broad range of severity. Some patients develop symptoms in early childhood while others remain asymptomatic until routine blood work reveals the condition. Spleen enlargement and mild jaundice are common, and acute hemolysis can occur with infections or oxidant drug exposure. Diagnosis for both forms relies on hematologic findings and molecular genetic testing of HBA1 and HBA2 genes. Treatment for Bart syndrome includes intrauterine transfusions followed by regular postnatal transfusions, with stem cell transplantation offering potential cure when a donor is available. Most individuals with HbH disease need no treatment, though transfusions may be required during hemolytic crises.
The updated guide gives clinicians current protocols for diagnosing and managing these inherited blood disorders, which range from fatal in infancy to mild enough to go unnoticed without screening.
Written by the Genomes desk from the primary source linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].