| Heterogeneity of hemoglobin H disease in childhood. | |
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MedLine Citation:
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PMID: 21345100 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Early diagnosis during newborn screening or infancy has enabled the observation of the natural history of hemoglobin H disease, a subtype of α-thalassemia. METHODS: We analyzed longitudinal clinical data for patients with hemoglobin H disease arising from the deletion of three of four α-globin genes (HbH) and from hemoglobin H Constant Spring (HCS), caused by the deletion of two α-globin genes and the Constant Spring mutation. RESULTS: We identified 86 patients with hemoglobin H disease (48 through newborn screening). Of these patients, 60 (70%) had HbH, 23 (27%) had HCS, and 3 (3%) had other, nondeletional forms of hemoglobin H disease. The parental ethnic background was Asian in 81% of patients, Hispanic in 5%, and African American in 3%, whereas mixed ancestry was observed in 10% of patients. Among the patients with deletional hemoglobin H disease, 15% had one or both parents with African-American ancestry. Growth was normal in patients with HbH during the first decade, but growth deficits began during infancy in those with HCS. Anemia was more severe in patients with HCS at all ages (P<0.001). Acute worsening of anemia with infections requiring urgent blood transfusion was observed in patients with HCS but not in those with HbH. The probability of receiving at least one transfusion by the age of 20 years was 3% for patients with HbH and 80% for those with HCS (P<0.001). Among patients with HCS, transfusions occurred in 13% of infants and 50% of children under the age of 6 years; splenectomy was associated with a significant improvement in hemoglobin levels (P=0.01) and a reduction in the number of transfusions. CONCLUSIONS: HCS should be recognized as a distinct thalassemia syndrome with a high risk of life-threatening anemia during febrile illnesses. HbH was not associated with an increased rate of severe anemia with infections and was managed without blood transfusions. Many patients with these disorders had mixed ethnic backgrounds, which highlights the need for extended newborn screening in populations that are traditionally considered to be at low risk for hemoglobin H disease. |
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Authors:
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Ashutosh Lal; Michael L Goldrich; Drucilla A Haines; Mahin Azimi; Sylvia T Singer; Elliott P Vichinsky |
Publication Detail:
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Type: Journal Article; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: The New England journal of medicine Volume: 364 ISSN: 1533-4406 ISO Abbreviation: N. Engl. J. Med. Publication Date: 2011 Feb |
Date Detail:
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Created Date: 2011-02-24 Completed Date: 2011-03-04 Revised Date: 2011-05-26 |
Medline Journal Info:
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Nlm Unique ID: 0255562 Medline TA: N Engl J Med Country: United States |
Other Details:
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Languages: eng Pagination: 710-8 Citation Subset: AIM; IM |
Affiliation:
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Hematology/Oncology, Children's Hospital and Research Center Oakland, Oakland, CA 94609, USA. alal@mail.cho.org |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Anemia / etiology, therapy Blood Transfusion / adverse effects Child Child, Preschool Female Ferritins / analysis, blood Follow-Up Studies Genotype Growth Hemoglobins, Abnormal / genetics* Humans Infant, Newborn Iron Overload / epidemiology, etiology Liver / chemistry Male Neonatal Screening Phenotype Quality of Life Young Adult alpha-Thalassemia* / complications, diagnosis, genetics, physiopathology |
| Grant Support | |
ID/Acronym/Agency:
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57480//PHS HHS |
| Chemical | |
Reg. No./Substance:
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0/Hemoglobins, Abnormal; 9007-73-2/Ferritins; 9066-22-2/Hemoglobin Constant Spring |
| Comments/Corrections | |
Comment In:
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N Engl J Med. 2011 May 26;364(21):2069-70; author reply 2071-2
[PMID:
21612485
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N Engl J Med. 2011 May 26;364(21):2070-1; author reply 2071 [PMID: 21612484 ] N Engl J Med. 2011 Feb 24;364(8):770-1 [PMID: 21345108 ] |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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