Severe α-thalassemia intermedia due to a compound heterozygosity for the highly unstable Hb Adana (HBA2: c.179G>A) and a novel codon 24 (HBA2: c.75T>A) mutation.

[alpha-thalassemia]

We report a novel mutation at codon 24 of the α 2 -globin gene (HBA 2 : c .75 T > A ) found in a Sundanese family . This novel mutation was detected during prenatal diagnosis . The couple already had a 7 -year -old boy who exhibited clinically severe α-thalassemia intermedia (α-TI ), and he was found to be a compound heterozygote for the novel mutation at codon 24 and the previously described Hb Adana (HBA 2 : c .179 G > A ) at codon 59 of the α 2 -globin gene . The father was a carrier of the novel point mutation and showed normal hemoglobin (Hb ) and a low mean corpuscular volume (MCV ) and mean corpuscular Hb (MCH ) value .

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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