Rare Diseases Symptoms Automatic Extraction

Criteria for detection of alpha-thalassemia-1 Thai type deletion in routine laboratory.

[alpha-thalassemia]

Using a single tube multiplex real-time PCR with SYBR Green1 and high resolution melting (HRM) analysis in routine laboratory for detection of alpha-thalassemia-1 Southeast Asian (SEA) type deletion simultaneously with Thai type deletion is costly.Criteria for laboratory testing of alpha-thalassemia-1 Thai type deletion were set as follow: (1) MCV < or = 75 fL and negative for alpha-thalassemia-1 SEA type deletion, beta-thalassemia or homozygous HbE; (2) HbE trait with HbE level < 21.5% and negative for a-thalassemia-1 SEA type deletion; or (3) Hb Bart's and HbH found on HPLC chromatogram but negative for alpha-thalassemia-1 SEA type deletion.From May 2010 to October 2012, the number of samples to detect for alpha-thalassemia-1 Thai type deletion decreased from 15,081 to 672 samples and the alpha-thalassemia-1 Thai type deletion trait was found in 7 samples (1.04%).The new testing algorithm can reduce number of samples for detection of alpha-thalassemia-1 Thai type deletion.

Diseases presenting "high resolution" symptom

  • acute rheumatic fever
  • allergic bronchopulmonary aspergillosis
  • alpha-thalassemia
  • cadasil
  • congenital toxoplasmosis
  • cystinuria
  • lymphangioleiomyomatosis
  • monosomy 21
  • oculocutaneous albinism

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