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Normal cognitive functioning in a patient with Hb Bart’s hydrops successfully cured by hematopoietic SCT

Bone Marrow Transplantation volume 49, pages 155–156 (2014)Cite this article

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Hb Bart’s hydrops fetalis, characterized by a complete loss of four-linked α-globin genes due to homozygotes or compound heterozygotes of α0-thalassemia alleles (−−/−−), is the most severe form of the thalassemia syndromes.1 Abolition of α-globin chains, which are critically required for fetal erythropoiesis to produce Hb F (α2γ2), causes affected fetuses to die in utero or shortly after birth, and is associated with several maternal complications.2, 3 In Thailand, over 5000 pregnancies each year are at risk of this condition, with 1250 new cases expected, because approximately 5–10% of Thailand’s population are carriers of α0-thalassemia traits.4, 5 A program for prevention and control of severe thalassemia syndromes, including Hb Bart’s hydrops, was initiated in Thailand 1994. However, there are still limitations on implementation and effectiveness of this program.5 Through the program, pregnant women are screened to identify couples at risk for severe thalassemia. Several patients with Hb Bart’s hydrops were misdiagnosed and some, with or without intrauterine intervention, had survived until birth. Previous reports have shown long-term neurological deficits and a delay in mental development in surviving Hb Bart’s hydrops patients. However, there is controversy about how best to manage such a condition (reviewed in the study by Higgs1). We describe here a patient with Hb Bart’s hydrops fetalis with normal cognitive development, 3 years after successful bone marrow transplantation.

Currently, the patient is 4.5 years old with a Hb of 13 g/dL (Hb A, 85%; Hb A2, 2.5%). She has not required blood transfusion for almost 2.5 years. Physical development was normal; height and weight were at the 50th percentile according to Thai standards. We used the Mullen Scales of Early Learning: AGS Edition to comprehensively measure cognitive functioning in the patient.6 This early learning composite score comprises performance on five subscales: gross motor (0–33 months only), fine motor, visual reception, perceptual language and expressive language. The t-scores for four cognitive skills, except for gross motor, in this patient were within the normal range (50±10). The Early Learning Composite normalized score, which is an estimation of overall intelligence, was 107 (normal, 100±15), suggesting that the patient had normal cognitive and intellectual development.

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Acknowledgements

We are grateful for the patient and her family for participation, and to Dr Sureelak Sujritpongsa for her expertise on developmental evaluation.

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Authors and Affiliations

  1. Division of Hematology and Oncology, Department of Pediatrics and Thalassemia Centre, Bangkok, Thailand

    B Pongtanakul, K Sanpakit & V Viprakasit

  2. Department of Transfusion Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand

    V Chongkolwatana

Authors
  1. B Pongtanakul
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  2. K Sanpakit
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  3. V Chongkolwatana
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  4. V Viprakasit
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Correspondence to V Viprakasit.

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The authors declare no conflict of interest.

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Author contributions

BP designed the study, analyzed the data and drafted the manuscript. KS and VC collected and analyzed clinical data. VV was responsible for the direction of the study, analyzed the data and wrote the final draft with all authors’ approval.

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Pongtanakul, B., Sanpakit, K., Chongkolwatana, V. et al. Normal cognitive functioning in a patient with Hb Bart’s hydrops successfully cured by hematopoietic SCT. Bone Marrow Transplant 49, 155–156 (2014). https://doi.org/10.1038/bmt.2013.131

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