Hemoglobin H (Hb H) disease in Canada: molecular diagnosis and review of 116 cases.
Am J Hematol
; 68(1): 11-5, 2001 Sep.
Article
en En
| MEDLINE
| ID: mdl-11559931
ABSTRACT
Over the past decade, we have characterized at the DNA level a total of 116 hemoglobin H (Hb H) disease patients living in Canada. The majority of patients were of southeast Asian descent (Chinese, Filipino, Laotian, Vietnamese), with a small number being of Mediterranean, Middle Eastern or East Indian background. A total of 15 distinct genotypes were detected, all but one being compound heterozygotes for a two-gene cis deletion and a single-gene deletion (-alpha/-) or a non-deletion mutation of the alpha2-globin gene (alpha(T) alpha/-). Seven different two-gene cis deletions were encountered, along with nine single-gene deletions and point mutations. The wide range of mutations associated with Hb H disease in Canada is a reflection of the population heterogeneity. The diagnosis of Hb H disease at the molecular level is important with respect to genetic counseling and the identification of families at risk for having pregnancies affected with Hb Bart's hydrops fetalis syndrome and/or Hb H disease. Six of the Hb H disease patients in our cohort had spouses who carried single-gene deletions, making these couples at risk for having children with Hb H disease. More important, seven patients had partners who carried two-gene cis deletions. These couples are at reproductive risk for both Hb Bart's hydrops fetalis syndrome and Hb H disease.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Alfa-Globulinas
/
Talasemia alfa
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Adolescent
/
Adult
/
Aged
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Child
/
Child, preschool
/
Female
/
Humans
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Infant
/
Male
/
Middle aged
País/Región como asunto:
America do norte
Idioma:
En
Revista:
Am J Hematol
Año:
2001
Tipo del documento:
Article
País de afiliación:
Canadá