Hb Cibeles [α2 CD25(B6) (Gly → Asp)]: a novel alpha chain variant causing alpha-thalassemia.

[alpha-thalassemia]

Thalassemias are the most frequent monogenic disorders around the world and are a serious health problem in areas with a high incidence . Thalassemias are particularly frequent in Mediterranean countries , the Middle East , Africa , the Indian subcontinent , and in the Southeast Asia . Of these , α-thalassemia is inherited as an autosomal recessive disorder . α-thalassemias are due to a deficiency or absence of hemoglobin (Hb ) α-chain synthesis and are characterized by microcytic and hypochromic cells anemia and a clinical phenotype varying from nearly asymptomatic to a lethal hemolytic anemia . Compound heterozygotes and some homozygotes have a moderate to severe form of α-thalassemia called HbH disease . Hb Bart 's hydrops fetalis is a lethal form in which no α-globin chain is synthesized . In this study we show a new structural variant of α-chain , Hb Cibeles [alpha 25 (B 6 ) Gly → Asp ], in heterozygous state , which was undetectable by electrophoretic or chromatographic methods . Hb Cibeles is thus a hyper-unstable hemoglobinopathy . In this new globin chain variant , an apolar amino acid is replaced by a negatively charged amino acid . This change may be responsible for the molecular hyper-instability similar to the mutation in the adjacent residues .

Diseases
Validation

Diseases presenting "severe form" symptom

alpha-thalassemia

benign recurrent intrahepatic cholestasis

canavan disease

child syndrome

congenital adrenal hyperplasia

dentinogenesis imperfecta

dystrophic epidermolysis bullosa

fabry disease

familial hypocalciuric hypercalcemia

familial mediterranean fever

harlequin ichthyosis

heparin-induced thrombocytopenia

hirschsprung disease

inclusion body myositis

kindler syndrome

lamellar ichthyosis

legionellosis

locked-in syndrome

megacystis-microcolon-intestinal hypoperistalsis syndrome

neonatal adrenoleukodystrophy

neuralgic amyotrophy

papillon-lefèvre syndrome

zellweger syndrome

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