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The First Thai Case of Nondeletional HbH Disease Caused by Compound Heterozygosity for α-Thalassemia-1 Chiang Rai
Duantida Songdej1, Praguywan Kadegasem1, Nongnuch Sirachainan1
1Department of Pediatrics, Faculty of Medicine, Division of Hematology/Oncology, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Hemoglobin (Hb) H disease presents a wide range of clinical phenotypes, from asymptomatic to severe forms, depending on significant genetic heterogeneity. This is the first report of clinical and hematological features of the nondeletional HbH disease caused by --CR/αCSα. A baby was born to a father and a mother with --CR and αCSα carriers, respectively. She had severe symptomatic hypochromic microcytic anemia at 2 months of age with Hb 7.8 g/dL, packed cell volume (PCV) 0.27 L/L, mean corpuscular volume (MCV) 64.3 fL, and mean corpuscular Hb (MCH) 18.3 pg. The Hb analysis using capillary electrophoresis (CE) showed Hb Bart's, HbH, and Hb CS peaks at 17.1%, 2.2%, and 1.6%, respectively. A better understanding of a patient's clinical and hematological features with --CR/αCSα is useful for hemoglobinopathy counseling for the national thalassemia controlling program.
Hemoglobin (Hb) H disease presents a wide range of clinical phenotypes, from asymptomatic to severe forms, depending on significant genetic heterogeneity. This is the first report of clinical and hematological features of the nondeletional HbH disease caused by --CR/αCSα. A baby was born to a father and a mother with --CR and αCSα carriers, respectively. She had severe symptomatic hypochromic microcytic anemia at 2 months of age with Hb 7.8 g/dL, packed cell volume (PCV) 0.27 L/L, mean corpuscular volume (MCV) 64.3 fL, and mean corpuscular Hb (MCH) 18.3 pg. The Hb analysis using capillary electrophoresis (CE) showed Hb Bart's, HbH, and Hb CS peaks at 17.1%, 2.2%, and 1.6%, respectively. A better understanding of a patient's clinical and hematological features with --CR/αCSα is useful for hemoglobinopathy counseling for the national thalassemia controlling program.
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