Thalassemia Phenotypes and Genotypes in Taiwan

A Retrospective Study Based on Thalassemia Screening of Young Men for Military Conscription

Hsiao Wei Lee, Shao Min Han, Youngsen Yang, Tseng Hsi Lin, Huey En Tzeng, Kuang Hsi Chang, Wen Li Hwang, Chieh Lin J. Teng

Research output: Contribution to journalArticle

Abstract

Prenatal thalassemia studies from Taiwan show that one-third of fetuses with genetic abnormalities have β-thalassemia major (β-TM). However, the phenotypes and genotypes of adult thalassemia warrant further investigation. From September 2006 to April 2014, 741 male candidates drafted for military service with mean corpuscular volume (MCV) <80 fL and serum ferritin >20 g/L were analyzed. The results showed that the detection rates of α- and β-thalassemia (α- an β-thal) were 50.20% (372/741) and 49.12% (364/741), respectively. Only five patients (0.67%) were diagnosed with both α- and β-thal. The- -SEA/αα mutation was found in 76.88% (286/372) of α-thal patients. Heterozygous mutations in IVS-II-654 (C > T) and codons 41/42 (-TCTT) accounted for 55.77% (203/364) of β-thal cases. The leukocyte counts for α- and β-thal were 6241.74 ± 1552.99 and 6622.87 ± 1814.41 × 109/L, respectively (p = 0.007). The α-thal patients had lower red blood cell (RBC) mass (5.85 ± 0.44 × 1012/L vs. 6.09 ± 0.45 × 1012/L; p < 0.001) and higher hemoglobin (Hb) (12.82 ± 0.72 vs. 12.35 ± 0.71 g/dL; p < 0.001) than β-thal patients. Mean serum ferritin values were 169.67 and 241.36 g/L, respectively, in α- and β-thal patients (p < 0.001), indicating more profound ineffective erythropoiesis in β-thal. Only four of the 741 patients underwent further hematological follow-up. Our study suggests that iron overload might be a potential problem in β-thal patients; therefore, regular follow-up is highly recommended.

Original languageEnglish
Pages (from-to)173-177
Number of pages5
JournalHemoglobin
Volume39
Issue number3
DOIs
Publication statusPublished - Jan 1 2015
Externally publishedYes

Fingerprint

Thalassemia
Ferritins
Taiwan
Screening
Hemoglobins
Blood
Iron
Retrospective Studies
Genotype
Cells
Phenotype
Erythrocyte Volume
Mutation
Iron Overload
Erythrocyte Indices
Erythropoiesis
beta-Thalassemia
Leukocyte Count
Codon
Fetus

Keywords

  • Hemoglobin (Hb)
  • Mutation
  • Taiwan
  • Thalassemia

ASJC Scopus subject areas

  • Hematology
  • Genetics(clinical)
  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

Thalassemia Phenotypes and Genotypes in Taiwan : A Retrospective Study Based on Thalassemia Screening of Young Men for Military Conscription. / Lee, Hsiao Wei; Han, Shao Min; Yang, Youngsen; Lin, Tseng Hsi; Tzeng, Huey En; Chang, Kuang Hsi; Hwang, Wen Li; Teng, Chieh Lin J.

In: Hemoglobin, Vol. 39, No. 3, 01.01.2015, p. 173-177.

Research output: Contribution to journalArticle

Lee, Hsiao Wei ; Han, Shao Min ; Yang, Youngsen ; Lin, Tseng Hsi ; Tzeng, Huey En ; Chang, Kuang Hsi ; Hwang, Wen Li ; Teng, Chieh Lin J. / Thalassemia Phenotypes and Genotypes in Taiwan : A Retrospective Study Based on Thalassemia Screening of Young Men for Military Conscription. In: Hemoglobin. 2015 ; Vol. 39, No. 3. pp. 173-177.
@article{1cce13fef1534aeeb902fde834872a44,
title = "Thalassemia Phenotypes and Genotypes in Taiwan: A Retrospective Study Based on Thalassemia Screening of Young Men for Military Conscription",
abstract = "Prenatal thalassemia studies from Taiwan show that one-third of fetuses with genetic abnormalities have β-thalassemia major (β-TM). However, the phenotypes and genotypes of adult thalassemia warrant further investigation. From September 2006 to April 2014, 741 male candidates drafted for military service with mean corpuscular volume (MCV) <80 fL and serum ferritin >20 g/L were analyzed. The results showed that the detection rates of α- and β-thalassemia (α- an β-thal) were 50.20{\%} (372/741) and 49.12{\%} (364/741), respectively. Only five patients (0.67{\%}) were diagnosed with both α- and β-thal. The- -SEA/αα mutation was found in 76.88{\%} (286/372) of α-thal patients. Heterozygous mutations in IVS-II-654 (C > T) and codons 41/42 (-TCTT) accounted for 55.77{\%} (203/364) of β-thal cases. The leukocyte counts for α- and β-thal were 6241.74 ± 1552.99 and 6622.87 ± 1814.41 × 109/L, respectively (p = 0.007). The α-thal patients had lower red blood cell (RBC) mass (5.85 ± 0.44 × 1012/L vs. 6.09 ± 0.45 × 1012/L; p < 0.001) and higher hemoglobin (Hb) (12.82 ± 0.72 vs. 12.35 ± 0.71 g/dL; p < 0.001) than β-thal patients. Mean serum ferritin values were 169.67 and 241.36 g/L, respectively, in α- and β-thal patients (p < 0.001), indicating more profound ineffective erythropoiesis in β-thal. Only four of the 741 patients underwent further hematological follow-up. Our study suggests that iron overload might be a potential problem in β-thal patients; therefore, regular follow-up is highly recommended.",
keywords = "Hemoglobin (Hb), Mutation, Taiwan, Thalassemia",
author = "Lee, {Hsiao Wei} and Han, {Shao Min} and Youngsen Yang and Lin, {Tseng Hsi} and Tzeng, {Huey En} and Chang, {Kuang Hsi} and Hwang, {Wen Li} and Teng, {Chieh Lin J.}",
year = "2015",
month = "1",
day = "1",
doi = "10.3109/03630269.2015.1036165",
language = "English",
volume = "39",
pages = "173--177",
journal = "Hemoglobin",
issn = "0363-0269",
publisher = "Informa Healthcare",
number = "3",

}

TY - JOUR

T1 - Thalassemia Phenotypes and Genotypes in Taiwan

T2 - A Retrospective Study Based on Thalassemia Screening of Young Men for Military Conscription

AU - Lee, Hsiao Wei

AU - Han, Shao Min

AU - Yang, Youngsen

AU - Lin, Tseng Hsi

AU - Tzeng, Huey En

AU - Chang, Kuang Hsi

AU - Hwang, Wen Li

AU - Teng, Chieh Lin J.

PY - 2015/1/1

Y1 - 2015/1/1

N2 - Prenatal thalassemia studies from Taiwan show that one-third of fetuses with genetic abnormalities have β-thalassemia major (β-TM). However, the phenotypes and genotypes of adult thalassemia warrant further investigation. From September 2006 to April 2014, 741 male candidates drafted for military service with mean corpuscular volume (MCV) <80 fL and serum ferritin >20 g/L were analyzed. The results showed that the detection rates of α- and β-thalassemia (α- an β-thal) were 50.20% (372/741) and 49.12% (364/741), respectively. Only five patients (0.67%) were diagnosed with both α- and β-thal. The- -SEA/αα mutation was found in 76.88% (286/372) of α-thal patients. Heterozygous mutations in IVS-II-654 (C > T) and codons 41/42 (-TCTT) accounted for 55.77% (203/364) of β-thal cases. The leukocyte counts for α- and β-thal were 6241.74 ± 1552.99 and 6622.87 ± 1814.41 × 109/L, respectively (p = 0.007). The α-thal patients had lower red blood cell (RBC) mass (5.85 ± 0.44 × 1012/L vs. 6.09 ± 0.45 × 1012/L; p < 0.001) and higher hemoglobin (Hb) (12.82 ± 0.72 vs. 12.35 ± 0.71 g/dL; p < 0.001) than β-thal patients. Mean serum ferritin values were 169.67 and 241.36 g/L, respectively, in α- and β-thal patients (p < 0.001), indicating more profound ineffective erythropoiesis in β-thal. Only four of the 741 patients underwent further hematological follow-up. Our study suggests that iron overload might be a potential problem in β-thal patients; therefore, regular follow-up is highly recommended.

AB - Prenatal thalassemia studies from Taiwan show that one-third of fetuses with genetic abnormalities have β-thalassemia major (β-TM). However, the phenotypes and genotypes of adult thalassemia warrant further investigation. From September 2006 to April 2014, 741 male candidates drafted for military service with mean corpuscular volume (MCV) <80 fL and serum ferritin >20 g/L were analyzed. The results showed that the detection rates of α- and β-thalassemia (α- an β-thal) were 50.20% (372/741) and 49.12% (364/741), respectively. Only five patients (0.67%) were diagnosed with both α- and β-thal. The- -SEA/αα mutation was found in 76.88% (286/372) of α-thal patients. Heterozygous mutations in IVS-II-654 (C > T) and codons 41/42 (-TCTT) accounted for 55.77% (203/364) of β-thal cases. The leukocyte counts for α- and β-thal were 6241.74 ± 1552.99 and 6622.87 ± 1814.41 × 109/L, respectively (p = 0.007). The α-thal patients had lower red blood cell (RBC) mass (5.85 ± 0.44 × 1012/L vs. 6.09 ± 0.45 × 1012/L; p < 0.001) and higher hemoglobin (Hb) (12.82 ± 0.72 vs. 12.35 ± 0.71 g/dL; p < 0.001) than β-thal patients. Mean serum ferritin values were 169.67 and 241.36 g/L, respectively, in α- and β-thal patients (p < 0.001), indicating more profound ineffective erythropoiesis in β-thal. Only four of the 741 patients underwent further hematological follow-up. Our study suggests that iron overload might be a potential problem in β-thal patients; therefore, regular follow-up is highly recommended.

KW - Hemoglobin (Hb)

KW - Mutation

KW - Taiwan

KW - Thalassemia

UR - http://www.scopus.com/inward/record.url?scp=84942792238&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84942792238&partnerID=8YFLogxK

U2 - 10.3109/03630269.2015.1036165

DO - 10.3109/03630269.2015.1036165

M3 - Article

VL - 39

SP - 173

EP - 177

JO - Hemoglobin

JF - Hemoglobin

SN - 0363-0269

IS - 3

ER -