Skip to main content

Advertisement

SpringerLink
Log in

Implementation of Newborn Screening for Hemoglobin H Disease in Mainland China

  • Original Article
  • Published:
Indian Journal of Hematology and Blood Transfusion Aims and scope Submit manuscript

Abstract

Hemoglobin H disease is the most severe non-fatal form of α-thalassemia syndrome characterized by pronounced microcytic hypochromic hemolytic anemia. It is predominantly seen in Southeast Asia, the Middle East and the Mediterranean. Studies suggest that hemoglobin H disease is not as benign a disorder as previously thought. Newborn screening for hemoglobin H disease is especially appealing because the screening test is based on the detection of hemoglobin Bart’s (γ4) that is only possible within the newborn period. In this study, we reported on a 4-year period of newborn screening program at a mainland Chinese hospital, which detected 35 babies with hemoglobin H disease in a total of 26 152 newborns. The overall prevalence for hemoglobin H disease among all newborns in southern China is ~1 in 1,000. These children need appropriate follow-up and potential comprehensive care during their growth and development.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

References

  1. Galanello R, Cao A (2011) Gene test review. α-thalassemia. Genet Med 13:83–88

    Article  CAS  PubMed  Google Scholar 

  2. Fucharoen S, Viprakasit V (2009) Hb H disease: clinical course and disease modifiers. Hematology Am Soc Hematol Educ Program 2009:26–34

    Article  Google Scholar 

  3. Chui DH, Fucharoen S, Chan V (2003) Hemoglobin H disease: not necessarily a benign disorder. Blood 101:791–800

    Article  CAS  PubMed  Google Scholar 

  4. Chan L, Ma S, Chan A, Ha S, Waye J, Lau Y, Chui D (2001) Should we screen for globin gene mutations in blood samples with mean corpuscular volume (MCV) greater than 80 fL in areas with a high prevalence of thalassaemia? J Clin Pathol 54:317–320

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  5. Tang HS, Zhou JY, Xie XM, Li DZ (2012) Newborn screening for α-thalassaemia by a capillary electrophoresis method. J Med Screen 19:159

    Article  PubMed  Google Scholar 

  6. Liao C, Li Q, Wei J et al (2007) Prenatal control of Hb Bart’s disease in southern China. Hemoglobin 31:471–475

    Article  CAS  PubMed  Google Scholar 

  7. Chan V, Yam I, Chen FE, Chan TK (1999) A reverse dot-blot method for rapid detection of non-deletion α thalassaemia. Br J Haematol 104:513–515

    Article  CAS  PubMed  Google Scholar 

  8. Au WY, Cheung WC, Hu WH, Chan GC, Ha SY, Khong PL, Ma SK, Liang R (2005) Hyperbilirubinemia and cholelithiasis in Chinese patients with hemoglobin H disease. Ann Hematol 84:671–674

    Article  CAS  PubMed  Google Scholar 

  9. Kemper AR, Knapp AA, Metterville DR, Comeau AM, Green NS, Perrin JM (2011) Weighing the evidence for newborn screening for Hemoglobin H disease. J Pediatr 158:780–783

    Article  PubMed  Google Scholar 

  10. Lal A, Goldrich ML, Haines DA, Azimi M, Singer ST, Vichinsky EP (2011) Heterogeneity of hemoglobin H disease in childhood. N Engl J Med 364:710–718

    Article  CAS  PubMed  Google Scholar 

  11. Benz EJ Jr (2011) Newborn screening for α-thalassemia–keeping up with globalization. N Engl J Med 364:770–771

    Article  CAS  PubMed  Google Scholar 

  12. Liao C, Mo QH, Li J et al (2005) Carrier screening for α- and β-thalassemia in pregnancy: the results of an 11-year prospective program in Guangzhou Maternal and Neonatal hospital. Prenat Diagn 25:163–171

    Article  CAS  PubMed  Google Scholar 

  13. Yin XL, Zhang XH, Zhou TH et al (2010) Hemoglobin H disease in Guangxi province, Southern China: clinical review of 357 patients. Acta Haematol 124:86–91

    Article  CAS  PubMed  Google Scholar 

  14. Xu XM, Zhou YQ, Luo GX et al (2004) The prevalence and spectrum of α and β thalassaemia in Guangdong Province: implications for the future health burden and population screening. J Clin Pathol 57:517–522

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  15. Munkongdee T, Pichanun D, Butthep P et al (2011) Quantitative analysis of Hb Bart’s in cord blood by capillary electrophoresis system. Ann Hematol 90:741–746

    Article  PubMed  Google Scholar 

  16. Srivorakun H, Fucharoen G, Changtrakul Y, Komwilaisak P, Fucharoen S (2011) Thalassemia and hemoglobinopathies in Southeast Asian newborns: diagnostic assessment using capillary electrophoresis system. Clin Biochem 44:406–411

    Article  CAS  PubMed  Google Scholar 

  17. Hoppe CC (2009) Newborn screening for non-sickling hemoglobinopathies. Hematology Am Soc Hematol Educ Program 2009:19–25

    Article  Google Scholar 

  18. Fucharoen S, Winichagoon P, Wisedpanichkij R et al (1998) Prenatal and postnatal diagnoses of thalassemias and hemoglobinopathies by HPLC. Clin Chem 44:740–748

    CAS  PubMed  Google Scholar 

  19. Campbell M, Henthorn JS, Davies SC (1999) Evaluation of cation-exchange HPLC compared with isoelectric focusing for neonatal hemoglobinopathies screening. Clin Chem 45:969–975

    CAS  PubMed  Google Scholar 

  20. Charoenkwan P, Taweephol R, Sirichotiyakul S et al (2010) Cord blood screening for α-thalassemia and hemoglobin variants by isoelectric focusing in northern Thai neonates: correlation with genotypes and hematologic parameters. Blood Cells Mol Dis 45:53–57

    Article  CAS  PubMed  Google Scholar 

  21. Higgins T, Mack M, Khajuria A (2009) Comparison of two methods for the quantification and identification of hemoglobin variants. Clin Biochem 42:701–705

    Article  CAS  PubMed  Google Scholar 

  22. Keren DF, Hedstrom D, Gulbranson R, Ou CN, Bak R (2008) Comparison of Sebia Capillarys capillary electrophoresis with the Primus high-pressure liquid chromatography in the evaluation of hemoglobinopathies. Am J Clin Pathol 130:824–831

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgments

This study was supported by grants from Guangzhou Health Bureau (20121A021012; 20131A011066), People’s Republic of China.

Author information

Authors and Affiliations

  1. Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women & Children Medical Center, Guangzhou Medical University, Jinsui Road 9, Zhujiang New Town, Guangzhou, 510623, Guangdong, People’s Republic of China

    Xing-Mei Xie, Jian-Ying Zhou, Jian Li, Ru Li, Can Liao & Dong-Zhi Li

Authors
  1. Xing-Mei Xie
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Jian-Ying Zhou
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Jian Li
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Ru Li
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Can Liao
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Dong-Zhi Li
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Dong-Zhi Li.

Additional information

Xing-Mei Xie and Jian-Ying Zhou have contributed equally to this study.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Xie, XM., Zhou, JY., Li, J. et al. Implementation of Newborn Screening for Hemoglobin H Disease in Mainland China. Indian J Hematol Blood Transfus 31, 242–246 (2015). https://doi.org/10.1007/s12288-014-0432-y

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12288-014-0432-y

Keywords

Search

Navigation