[Genotypes of 1 571 cases of Hb H disease in Guangxi area].

[alpha-thalassemia]

To analyze the status and genotypes of Hb H disease in GuangXi area .Human genomic DNA of 50 377 suspected thalassemia patients was extracted from blood , amniotic fluid and chorionic villi by beads . The deletion of α-thalassemia was detected by Gap -PCR , and the gene mutation of α or β-thalassemia was detected by PCR- RDB . Performing multiplex ligationdependent probe amplification detection and gene sequencing in α or β-globin for the specimens in question .There were 1 571 Hb H disease patients in total from 2011 to 2013 , and the detection rates were 2 .82 %, 3 .54 % and 3 .00 % respectively . The vast majority of patients had the Southeast Asian deletion (--(SEA )) on one allele . The - α ³ ·⁷ (rightward ) deletion was the most common on the other allele , followed by Hb Constant Spring (Hb CS ), the -α (4 .2 ) (leftward ) deletion , Hb Westmead (Hb WS ) and Hb Quong Sze (Hb QS ) mutations . There were 33 Hb H disease patients which genotypes was α (CS )α /α (CS )α . Five patients had THAI deletion (--(THAI )) with deletion or point mutation of α-thalassemia . 95 patients had concomitant β-thalassemia (β-thal ) heterozygosity . Tere was a novel genotype of --(SEA )/-α ²¹ ·⁹ causing Hb H disease .GuangXi area had a high accidence of Hb H disease , the results reflected the genetic diversity and genetic heterogeneity of Hb H disease , the latter may also occur new mutations or combined β-thalassemia , some effective measures should be taken to strengthen screening efforts to prevent underdiagnosis of Hb H disease .

Diseases
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Diseases presenting "amniotic fluid and chorionic villi by beads" symptom

alpha-thalassemia

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