Rare Diseases Symptoms Automatic Extraction

The prevalence and molecular spectrum of α- and β-globin gene mutations in 14,332 families of Guangdong Province, China.

[alpha-thalassemia]

To reveal the familial prevalence and molecular variation of α- and β-globin gene mutations in Guangdong Province.A total of 40,808 blood samples from 14,332 families were obtained and analyzed for both hematological and molecular parameters.A high prevalence of α- and β-globin gene mutations was found. Overall, 17.70% of pregnant women, 15.94% of their husbands, 16.03% of neonates, and 16.83% of couples (pregnant women and their husbands) were heterozygous carriers of α- or β-thalassemia. The regions with the highest prevalence were the mountainous and western regions, followed by the Pearl River Delta; the region with the lowest prevalence was Chaoshan. The total familial carrier rate (both spouses were α- or β-thalassemia carriers) was 1.87%, and the individual carrier rates of α- and β-thalassemia were 1.68% and 0.20%, respectively. The total rate of moderate-to-severe fetal thalassemia was 12.78% among couples in which both parents were carriers.There was a high prevalence of α- and β-thalassemia in Guangdong Province. This study will contribute to the development of thalassemia prevention and control strategies in Guangdong Province.

Diseases presenting "high prevalence" symptom

  • 22q11.2 deletion syndrome
  • acute rheumatic fever
  • adrenal incidentaloma
  • allergic bronchopulmonary aspergillosis
  • alpha-thalassemia
  • cholangiocarcinoma
  • classical phenylketonuria
  • congenital adrenal hyperplasia
  • congenital toxoplasmosis
  • cowden syndrome
  • cutaneous mastocytosis
  • cystinuria
  • dracunculiasis
  • dystrophic epidermolysis bullosa
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • fabry disease
  • familial hypocalciuric hypercalcemia
  • familial mediterranean fever
  • gm1 gangliosidosis
  • heparin-induced thrombocytopenia
  • homocystinuria without methylmalonic aciduria
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • legionellosis
  • lymphangioleiomyomatosis
  • neuralgic amyotrophy
  • oculocutaneous albinism
  • oligodontia
  • oral submucous fibrosis
  • papillon-lefèvre syndrome
  • pendred syndrome
  • phenylketonuria
  • primary hyperoxaluria type 1
  • pyomyositis
  • scrub typhus
  • sneddon syndrome
  • trochlear dysplasia
  • waldenström macroglobulinemia
  • wiskott-aldrich syndrome
  • zellweger syndrome

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