The coinheritance of beta- and alpha- thalassemia: a review of one patient and her family.
The diagnosis and management of alpha-thalassemia may be complicated by the variability of the phenotype, which is due to the interaction of coinherited alpha-thalassemia and the variable severity of beta-thalassemia mutations. A well-documented case of complex beta- and alpha-thalassemia coinheritance is described. Laboratory and clinical data for the patient and her family are reviewed. The patient is an asymptomatic girl, one of identical twins. She presented at 1 month of age for follow-up of an abnormal newborn-screening result (hemoglobin F only), which initially suggested homozygosity for beta-thalassemia. Extensive studies on the patient and family revealed that she had coinherited alpha-thalassemia traits and homozygous beta-thalassemia. This case demonstrates the interaction of coinherited alpha- and beta-thalassemia with the resultant amelioration of the clinical phenotype. It also highlights the importance of family studies and close follow-up in diagnosing complex hemoglobinopathies.
Mast
Kelley J
KJ
Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.
Hammond
Sue
S
Qualman
Stephen J
SJ
Kahwash
Samir B
SB
D001741:Black or African American; D001797:Blood Protein Electrophoresis; D004200:Diseases in Twins / Q000175:diagnosis / Q000235:genetics*; D004912:Erythrocytes / Q000166:cytology; D005192:Family Health; D005260:Female; D017353:Gene Deletion; D006580:Genetic Carrier Screening; D006454:Hemoglobins / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D010446:Peptide Fragments / Q000235:genetics; D010641:Phenotype; D014430:Twins, Monozygotic; D017085:alpha-Thalassemia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D017086:beta-Thalassemia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*
D006454:Hemoglobins; D010446:Peptide Fragments; C070077:alpha(A) globin