Molecular Spectrum of α-Globin Gene Defects in the Omani Population.

[alpha-thalassemia]

Abstract We describe the molecular characterization of α-globin gene defects in a cohort of 634 Omani patients . A total of 21 different α gene mutations were found in 484 subjects . Overall , we identified three different large deletions , three small deletions , 11 point mutations [two on the α 2 polyadenylation signal (polyA ) (HBA 2 : c .*94 A >G ), and nine α chain variants ], three ααα (anti 3 .7 ) triplication , a 21 nucleotide (nt ) duplication on the α 1 gene and two novel (presumed ) polymorphisms on the α 3 .7 kb hybrid gene , namely -5 (C >T ) and +46 (C >A ). Of these defects , 15 have not been previously reported in the Omani population . This large heterogeneity of α-thalassemia (α-thal ) observed in the Omani population could be expected in neighboring Arab countries . The high frequency of α-thal , solely or in association with β-globin gene defects , emphasize the necessity of adding α-thal testing to pre marital programs for accurate genetic counseling .

Diseases
Validation

Diseases presenting "high frequency" symptom

alpha-thalassemia

canavan disease

classical phenylketonuria

cohen syndrome

cowden syndrome

cystinuria

erdheim-chester disease

familial hypocalciuric hypercalcemia

familial mediterranean fever

gm1 gangliosidosis

heparin-induced thrombocytopenia

hirschsprung disease

homocystinuria without methylmalonic aciduria

inclusion body myositis

kabuki syndrome

kallmann syndrome

krabbe disease

lymphangioleiomyomatosis

neonatal adrenoleukodystrophy

papillon-lefèvre syndrome

pyruvate dehydrogenase deficiency

waldenström macroglobulinemia

x-linked adrenoleukodystrophy

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