The coinheritance of beta- and alpha- thalassemia: a review of one patient and her family.
Lab Hematol
; 15(3): 30-3, 2009.
Article
em En
| MEDLINE
| ID: mdl-19758967
ABSTRACT
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.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Talassemia beta
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Talassemia alfa
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Doenças em Gêmeos
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
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Male
/
Newborn
Idioma:
En
Revista:
Lab Hematol
Assunto da revista:
HEMATOLOGIA
/
TECNICAS E PROCEDIMENTOS DE LABORATORIO
Ano de publicação:
2009
Tipo de documento:
Article
País de afiliação:
Estados Unidos