Rare Diseases Symptoms Automatic Extraction

[Gene distribution characteristics of deletional α-thalassemia in Guangxi region].

[alpha-thalassemia]

To analyze the detection rate and gene distribution characteristic of deletional α-thalassemia in Guangxi area, and to provide theoretic basis for thalassemia gene diagnosis and genetic counseling.The regular gene diagnosis of 3 types of α-thal (-- (SEA),- α(3.7),- α(4.2)) was performed by gap-PCR, multiple ligation probe and gene sequencing for globin α or β were used to detect those samples whose genotype and phenotype were not consistent. And the distribution characteristic of α-thalassemia gene in Guangxi area was then analyzed.Out of 51 191 suspected thalassemia patients, there were 19 853 cases of deletional a-thalassemia, accounted for 39.9% in total positive rate, including 19 780 cases of regular types(--(SEA), - α(3.7), - α(4.2)), 61 cases of Thailand-type deletion, 9 cases of triplet type (Hong Kong) (αααHK), 1 case of 21.9 kb deletion type and 2 cases of 809 bp deletion type.Types of deletional a-thalassemia were complex and accounted for large proportion in Guangxi area. Special gene diagnoses were needed for those couples whose genotype and phenotype were not consistent, in order to provide reliable basis for genetic counseling and 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

You can validate or delete this automatically detected symptom