Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Perinatal/Neonatal Case Presentation
  • Published:

Perinatal/Neonatal Case Presentation

Homozygous α-thalassemia in a growth retarded, non-hydropic premature newborn

Journal of Perinatology volume 28, pages 158–159 (2008)Cite this article

Abstract

A newborn with homozygous α-thalassemia presented with intrauterine growth retardation and presumed persistent pulmonary hypertension. He also had moderate anemia, hepatomegaly and hypospadias. Correlating the newborn's clinical presentation with an underlying cause of anemia was helpful for early diagnosis. Prenatal blood tests must include red cell indices and a mean corpuscular volume value below 80 fL should prompt thalassemia screening in an at-risk population.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Similar content being viewed by others

References

  1. Zaisov R, Matoth Y . Red cell values on the first postnatal day during the last 16 weeks of gestation. Am J Hematol 1976; 1: 272–278.

    Google Scholar 

  2. Lie-Injo LE . Alpha-chain thalassemia and hydrops fetalis in Malaya: report of five cases. Blood 1962; 5: 581–590.

    Google Scholar 

  3. Tan SL, Tseng AM, Thong PW . Bart's hydrops fetalis—clinical presentation and management—an analysis of 25 cases. Aust NZ J Obstet Gynaecol 1989; 29: 233–237.

    Article  CAS  Google Scholar 

  4. Shyur SD, Shih CC, Hung HY, Lin-Chu M, Liang DC, Lan CC et al. Non-hydropic cases in homozygous alpha thalassemia: report of 3 cases. J Formosan Med Assoc 1987; 86: 438–441.

    CAS  Google Scholar 

  5. Monaco SE, Davis M, Huang AC, Bhagat G, Baergen RN, Lorenz JM et al. Alpha-thalassemia major presenting in a term neonate without hydrops. Pediatr Dev Pathol 2005; 8: 706–709.

    Article  Google Scholar 

  6. Weatherall DJ . The thalassaemias. BMJ 1997; 314: 1675–1678.

    Article  CAS  Google Scholar 

  7. Thiolo EH, Curlander JB, Hay WW . Pulse oximetry. In: Brans YW and Hay WW (eds). Physiological Monitoring and Instrument Diagnosis in Perinatal and Neonatal Medicine. Cambridge University Press: Cambridge, New York, 1995; pp 147–161.

    Google Scholar 

  8. Pologe JA, Raley DM . Effects of fetal hemoglobin on pulse oximetry. J Perinatol 1987; 7: 423–426.

    Google Scholar 

  9. Dame C, Albers N, Hasan C, Bode U, Eigel A, Hansmann M et al. Homozygous alpha-thalassaemia and hypospadias—common etiology or incidental association? Eur J Pediatr 1999; 158: 217–220.

    Article  CAS  Google Scholar 

  10. Fung TY, Kin LT, Kong LC, Keung LC . Homozygous alpha-thalassemia associated with hypospadias in three survivors. Am J Med Genet 2000; 95: 287–290.

    Article  Google Scholar 

  11. Gagnon R, Harding R, Brace RA . Amniotic fluid and fetal urinary responses to severe placental insufficiency in sheep. Am J Obstet Gynecol 2002; 186: 1076–1094.

    Article  Google Scholar 

  12. Bain BJ, Amos RJ, Bareford D, Chapman C, Davies SC, Old JM, et al., for the General Haematology Task Force of the British Committee for Standards in Haematology. Guidelines on the laboratory diagnosis of haemoglobinopathies. Br J Haematol 1998; 101: 783–792.

    Article  Google Scholar 

  13. NHS Antenatal and Newborn Screening Programmes: sickle cell and thalassaemia. Handbook for Laboratories Sept 2006 (accessed online 29 October 2007 at http://www.sickleandthal.org.uk/Documents/Labhandbook2006.pdf).

  14. Chui DHK, Waye JS . Hydrops fetalis caused by α-thalassemia: an emerging health care problem. Blood 1998; 91: 2213–2222.

    CAS  PubMed  Google Scholar 

  15. Kham SK, Quah TC, Loong AM, Tan PL, Fraser A, Chong SS et al. A molecular epidemiologic study of thalassemia using newborns' cord blood in a multiracial Asian population in Singapore: results and recommendations for a population screening program. J Pediatr Hematol Oncol 2004; 26: 817–819.

    CAS  PubMed  Google Scholar 

  16. Hofstaetter C, Gonser M, Goelz R . Perinatal case report of unexpected thalassemia Hb Bart. Fetal Diagn Ther 1993; 8: 418–422.

    Article  CAS  Google Scholar 

Download references

Acknowledgements

Dr Wong SC from Lab Medicine, National University Hospital, Singapore performed the thalassemia diagnostic studies on the baby and parents.

Author information

Authors and Affiliations

  1. Department of Neonatology, National University Hospital, Singapore

    Y P M Ng & R Joseph

  2. Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore

    R Joseph

  3. Department of Obstetrics and Gynecology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore

    A Biswas

  4. Department of Obstetrics and Gynecology, National University Hospital, Singapore

    A Biswas

Authors
  1. Y P M Ng
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. R Joseph
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. A Biswas
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Y P M Ng.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Ng, Y., Joseph, R. & Biswas, A. Homozygous α-thalassemia in a growth retarded, non-hydropic premature newborn. J Perinatol 28, 158–159 (2008). https://doi.org/10.1038/sj.jp.7211873

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/sj.jp.7211873

Keywords

Search

Advanced search

Quick links