[Molecular diagnosis for a novel deletion mutation of α thalassemia].

[alpha-thalassemia]

To raise awareness of the pathogenesis and diagnosis of thalassemia by reporting one case of α thalassemia patient with a large deletion fragment and analyzing the pedigree .Firstly , blood cells and hemoglobin electrophoresis analysis were used for screening of thalassemia , and then three common kinds of deletional α thalassemia in Chinese was detected by Gap -PCR , three common kinds of non- deletional α thalassemia and seventeen common mutations of β thalassemia in Chinese were analyzed by using PCR- RDB . The unknown mutation of samples was identified with Multiplex Ligation-dependent Probe Amplification (MLPA ) and DNA sequencing .The proband female presented with microcytic hypochromic anemia (hemoglobin 71 g /L , mean corpuscular volume 52 .4 fl , mean corpuscular hemoglobin 16 .1 pg ), and hemoglobin A 2 1 .4 %. The identified large deletion fragment length was 21 925 bp , so far which had not been reported in the world and was named -α ²¹ ·⁹ . It was registered in USA DNA database and GenBank accession number as KF 360979 . The genotype of her mother and father and brother were αα /-α ²¹ ·⁹ , --(SEA )/-α ³ ·⁷ , αα /-α ³ ·⁷ respectively , and the genotype of her and her sister were the same of --(SEA )/-α ²¹ ·⁹ . Her husband gene of thalassemia had no mutation , so prenatal diagnosis of thalassemia was not carried out in the pregnant woman .The discovery of -α (21 .9 ) deletion mutation was enriched the DNA mutation gene database of thalassemia , and had important significance for genetic counseling and thalassemia prenatal diagnosis .

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

You can validate or delete this automatically detected symptom