NDLI: Heterogeneity of hemoglobin H disease in childhood. (Journal: New England Journal of Medicine Volume: 364 Issue: 8)

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Lal, Ashutosh Goldrich, Michael L. Vichinsky, Elliott P. Singer, Sylvia T. Haines, Drucilla A. Azimi, Mahin
Description	Author Affiliation: Lal A ( Hematology/Oncology, Children's Hospital and Research Center Oakland, Oakland, CA 94609, USA. alal@mail.cho.org)
Abstract	BACKGROUND: Early diagnosis during newborn screening or infancy has enabled the observation of the natural history of hemoglobin H disease, a subtype of -thalassemia. METHODS: We analyzed longitudinal clinical data for patients with hemoglobin H disease arising from the deletion of three of four -globin genes (HbH) and from hemoglobin H Constant Spring (HCS), caused by the deletion of two -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.
ISSN	00284793
Issue Number	8
Volume Number	364
e-ISSN	15334406
Journal	New England Journal of Medicine
Language	English
Publisher	Massachusetts Medical Society (United States)
Publisher Date	2011-02-24
Publisher Place	United States
Access Restriction	Subscribed
Subject Keyword	Hemoglobins, Abnormal Genetics Alpha-Thalassemia Adolescent Adult Anemia Etiology Therapy Blood Transfusion Adverse Effects Child Child, Preschool Female Ferritins Analysis Blood Follow-Up Studies Genotype Growth Humans Infant, Newborn Iron Overload Epidemiology Liver Chemistry Male Neonatal Screening Phenotype Quality Of Life Young Adult Complications Diagnosis Physiopathology Journal Article Research Support, U.S. Gov't, P.H.S. Medicine
Content Type	Text
Resource Type	Article
Subject	Medicine

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in