การเปลี่ยนแปลงของสัดส่วน hemoglobin (Hb) E และ Hb F จากการมียีน alpha-thalassemia ร่วม ในกลุ่มธาลัสซีเมียที่มี Hb E เป็นส่วนประกอบ
Keywords:
การตรวจวิเคราะห์ฮีโมโกลบิน, แอลฟาธาลัสซีเมีย, ฮีโมโกลบินอีAbstract
Background: Phenotypes of specific hemoglobin (Hb) could be altered by a co-inheritance of alpha thalassemia which commonly found in the population.
Objective: The study aimed to demonstrate phenotypic alteration of each Hb fraction from an alpha thalassemia co-inheritance in Hb E related disorders.
Method: The study was conducted using blood specimens and records of Hb analysis determined by high-performance liquid chromatography from a thalassemia prenatal control program at the Thalassemia Research Unit, Naresuan University Hospital between February 2014 and January 2017. Hb E related disorders were identified comprising 116 Hb E/beta thalassemia compound heterozygotes, 403 Hb E homozygotes and 332 Hb E heterozygotes. DNA method to detect alpha0- thalassemia (Southeast Asian and Thai deletion) and alpha+-thalassemia (-3.7 kb and -4.2 kb deletions) alleles were determined in all samples using gap-polymerase chain reaction (PCR) and real-time PCR. Fractions of Hb E and F were compared between specific Hb E related disorders with different copy numbers of alpha globin genes.
Result: In Hb E/beta thalassemia compound heterozygote, fractions of Hb E substantially increased correlated with lesser copy numbers of alpha-globin genes, while fractions of Hb F changed in the opposite direction. Fractions of Hb E and Hb F in other Hb E related disorders were significantly affected by an alpha-thalassemia co-inheritance.
Conclusion: Our study demonstrated a pattern of phenotypic alteration of Hb fractions in specific Hb E related disorders with different copy numbers of alpha globin genes. The misdiagnosis problem could have occurred in prenatal control for beta-thalassemia, which relies on phenotypic diagnosis using Hb analysis.
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References
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