α-Globin gene mutations in Isfahan Province, Iran.

[alpha-thalassemia]

α-Thalassemia (α-thal ) encompasses a spectrum of mutations including deletion and point mutations on the α-globin chains that is characterized by a reduction or complete absence of α-globin genes . Most of the α-thal cases are deletions involving one (α (+)) or both (α (0 )) α-globin genes , although point mutations (α (T )α or αα (T )) are found as well . In this study , 314 individuals with low hematological values , normal Hb A 2 who were not affected with β-thal or iron deficiency , were investigated for the presence of α-thal mutations . The most common deletion was -α (3 .7 ) (rightward ) with a frequency of 70 .7 %, followed by α (-5 nt ) (-TGAGG ) (8 .7 %), -α (4 .2 ) (leftward ) (4 .7 %), the polyadenylation signal (polyA 2 ) site (AATAAA > AATGAA ) (4 .2 %), -(α )(20 .5 ) (3 .8 %), Hb Constant Spring [Hb CS , α 142 , Stop →Gln ; HBA 2 : c .427 T > C ] (2 .9 %), polyA 1 (AATAAA > AATAAG ) and α (codon 19 ) (GCG > GC -, α 2 ) (16 %), and - -(MED ) (0 .9 %). The results of this study may be valuable for designing a plan for carrier screening , premarital genetic counseling , prenatal diagnosis (PND ) and reducing excessive health care costs to an affordable level in Isfahan Province , Iran .

Diseases
Validation

Diseases presenting "prenatal diagnosis" symptom

22q11.2 deletion syndrome

achondroplasia

adrenomyeloneuropathy

alexander disease

alpha-thalassemia

aromatase deficiency

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

classical phenylketonuria

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cystinuria

dentinogenesis imperfecta

epidermolysis bullosa simplex

harlequin ichthyosis

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

junctional epidermolysis bullosa

kindler syndrome

krabbe disease

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

neonatal adrenoleukodystrophy

oculocutaneous albinism

omenn syndrome

phenylketonuria

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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