ASSOCIATION OF Hb THAILAND [alpha 56(E5)Lys -> Thr] AND Hb PHNOM PENH [alpha 117(GH5)-Ile-alpha 118(H1)] WITH alpha(0)-THALASSEMIA: MOLECULAR AND HEMATOLOGICAL FEATURES AND DIFFERENTIAL DIAGNOSIS

作者：Singha Kritsada; Srivorakun Hataichanok; Fucharoen Goonnapa; Changtrakul Yossombat; Komwilaisak Patcharee; Jetsrisuparb Arunee; Puangplruk Rawiwan; Fucharoen Supan^*

来源：Hemoglobin, 2013, 37(1): 37-47.

DOI：10.3109/03630269.2012.747964

• Hb Phnom Penh
• Hb Thailand
• alpha(0)-Thalassemia (alpha(0)-thal)

We report the molecular and hematological characteristics of two rare hemoglobin (Hb) variants found in associations with a common alpha(0)-thalassemia (alpha(0)-thal) in Thai patients. The first case (P1) was a generally healthy 27-year-old man discovered during our ongoing thalassemia screening program. Hemoglobin and DNA analyses identified a previously undescribed condition of compound heterozygosity for Hb Thailand [alpha 56(E5) Lys -> Thr] and alpha(0)-thal (SEA deletion). The second case (P2) was a 4-year-old boy with hypochromic microcytic anemia. Hemoglobin and DNA analyses also identified a compound heterozygosity for Hb Phnom Penh [alpha 117(GH5)-Ile-alpha 118(H1)] in association with alpha(0)-thal (SEA deletion). Although Hb H (beta(4)) inclusion bodies were observed in both cases, Hb analysis using both high performance liquid chromatography (HPLC) and capillary electrophoresis (CE) did not show Hb H. While the two Hb variants could be recognized on Hb HPLC analysis, their corresponding Hb A(2) derivatives: the Hb A(2)-Thailand and Hb A(2)-Phnom Penh, were clearly observed on CE. Apparently, combination of these two Hb variants with alpha(0)-thal are not expressed as Hb H disease. The two Hb variants could be confirmed by polymerase chain restriction-restriction fragment length polymorphism (PCR-RFLP) and allele-specific PCR assays.

• 出版日期2013