A New Slow-Moving Hemoglobin Variant Hb Tiani or α2β239(C5)Gln+Arg, Observed In A Chinese Family Living In Gansu

Li, H. J.; Zhao, X. N.; Li, H. W.; Li, L.; Liang, K. X.; Wang, R. P.; Chang, Tun-Tschu; Wilson, J. B.; Webber, B. B.; Huisman, T. H. J.

doi:10.3109/03630269009005810

Hemoglobin

1990

DOI: 10.3109/03630269009005810

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A New Slow-Moving Hemoglobin Variant Hb Tiani or α₂^β₂³⁹(C5)Gln+Arg, Observed In A Chinese Family Living In Gansu

H. J. Li¹,

X. N. Zhao²,

H. W. Li³

et al.

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Cited by 11 publications

References 5 publications

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Abnormal hemoglobins in the Silk Road region of China

Houjun¹,

Zhao

Fan³

et al. 1990

Hum Genet

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A review is presented of the occurrence of 24 abnormal hemoglobins (13 alpha-chain variants and 11 beta-chain variants) in populations in the Silk Road area of Northwestern China. Most frequently occurring were Hb D-Punjab [beta 121(GH4)Glu----Gln] in Uygurs, Kazaks, and Khalkhas, Hb G-Taipei [beta 22(B4)Glu----Gly] in persons of the Han nationality, and Hb G-Coushatta [beta 22 (B4)Glu----Ala] in the Uygurs, Kazaks, Hans, and related nationalities. The data suggest that these variants likely originated in Central Asia, in the Han nationality of China, and in the minorities of northern China, respectively. Other variants occurred at considerably lower frequencies and were imported from other countries or arose as independent mutations. Two variants [Hb Tashikuergan or alpha 19(AB1)Ala----Glu; Hb Tianshui or beta 39(C5) Gln----Arg] were observed for the first time. The data from this study of the many variants support the movements of various populations in this area, as reported in numerous historical documents.

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Abnormal hemoglobins in the Silk Road region of China

Houjun¹,

Zhao

Fan³

et al. 1990

Hum Genet

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Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening

et al. 2015

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Children with sickle cell disease (SCD) benefit from newborn screening, because life-threatening complications can be prevented by pre-symptomatic diagnosis. In Germany, the immigration of people from endemic countries is steadily growing. Comprehensive data about the epidemiology and prevalence of SCD in Germany are however lacking, and SCD is not included in the national newborn screening program. We provide data on the prevalence of SCD in a population from both urban and rural areas in Southwest Germany. Anonymized dried blood spots from 37,838 unselected newborns were analyzed by allele-specific PCR for the HbS mutation. Samples tested positive were subjected to Sanger sequencing of the entire β-globin coding sequence firstly to validate the screening and secondly to identify compound heterozygous SCD patients with other mutations of the β-globin gene. We identified 83 carriers of the sickle cell trait, three compound heterozygous SCD patients (two with sickle cell-β-thalassemia, one with sickle cell-Hb Tianshui) but no homozygous SCD patients. The novel molecular method and strategy for newborn screening for SCD presented here compares favorably in terms of sensitivity (1.0 for homozygous HbS, 0.996 for heterozygous HbS), specificity (0.996), practicability, and costs with conventional biochemical screening. Our results demonstrate a significant prevalence of SCD of approximately 1:12,000 in an unselected urban and rural population in Southwest Germany. Together with previously published even higher results from exclusively urban populations in Berlin and Hamburg, our data provide the basis for the decision on a newborn screening program for SCD in Germany.

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Hb Tianshui (HBB: C.119A > G) in Compound Heterozygosity with Hb S (HBB: C.20A > T) from Odisha, India

et al. 2016

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We describe here a rare β-globin gene variant, Hb Tianshui [β39(C5)Glu→Arg; HBB: c.119A > G], detected during routine screening in Odisha, India. This is the second report of Hb Tianshui and the first to describe the cation exchange high performance liquid chromatography (HPLC) and DNA studies of two cases of this variant. Both cases had coinherited Hb S (HBB: c.20A > T) but none presented with typical symptoms of sickle cell disease. One of the cases was heterozygous for a common α-thalassemia (α-thal) allele (-α(3.7)) (rightward) (NG_000006.1: g.34164_37967del3804) and marginally raised Hb F percentage, while the other Hb S/Hb Tianshui case was completely benign and healthy. An atypical Asian Indian haplotype [+ - + - +] could be assigned to the Hb Tianshui variant. Hb Tianshui seems to mimic a few other Hb variants in cation exchange HPLC. However, we report two specific patterns in the chromatograms that are characteristic to Hb Tianshui. Combining an alkaline electrophoresis result with cation exchange HPLC at screening would be preferred to detect this rare variant, especially in regions with considerable frequency of Hb E [β26(B8)Glu→Lys; HBB: c.79G > A] or Hb S.

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A New Slow-Moving Hemoglobin Variant Hb Tiani or α₂^β₂³⁹(C5)Gln+Arg, Observed In A Chinese Family Living In Gansu

Cited by 11 publications

References 5 publications

Abnormal hemoglobins in the Silk Road region of China

Abnormal hemoglobins in the Silk Road region of China

Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening

Hb Tianshui (HBB: C.119A > G) in Compound Heterozygosity with Hb S (HBB: C.20A > T) from Odisha, India

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