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Genotypes of 1 571 cases of Hb H disease in Guangxi area / 中华血液学杂志
Chinese Journal of Hematology ; (12): 728-731, 2014.
Article in Chinese | WPRIM | ID: wpr-242075
ABSTRACT
<p><b>OBJECTIVE</b>To analyze the status and genotypes of Hb H disease in GuangXi area.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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 - α³·⁷ (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)/-α²¹·⁹ causing Hb H disease.</p><p><b>CONCLUSION</b>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.</p>
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: China / Alpha-Thalassemia / Asian People / Genetics / Genotype Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Infant, Newborn Country/Region as subject: Asia Language: Chinese Journal: Chinese Journal of Hematology Year: 2014 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: China / Alpha-Thalassemia / Asian People / Genetics / Genotype Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Infant, Newborn Country/Region as subject: Asia Language: Chinese Journal: Chinese Journal of Hematology Year: 2014 Type: Article