Rare Diseases Symptoms Automatic Extraction

[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 A2 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 -α²¹·⁹. It was registered in USA DNA database and GenBank accession number as KF360979. The genotype of her mother and father and brother were αα/-α²¹·⁹, --(SEA)/-α³·⁷, αα/-α³·⁷ respectively, and the genotype of her and her sister were the same of --(SEA)/-α²¹·⁹. 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 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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