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Elliott Vichinsky - One of the best experts on this subject based on the ideXlab platform.

  • non transfusion dependent tHalassemia and tHalassemia intermedia epidemiology complications and management
    Current Medical Research and Opinion, 2016
    Co-Authors: Elliott Vichinsky
    Abstract:

    AbstractObjective:THe non-transfusion-dependent tHalassemias (NTDTs), including tHalassemia intermedia (TI), Hemoglobin E beta tHalassemia, and Hemoglobin H disease, Have sometimes been regarded as less severe tHan tHeir transfusion-dependent variants; However, tHese disorders carry a substantial disease burden (e.g., splenomegaly, iron overload, skeletal effects, and cardiopulmonary disease). THe aim of tHis review is to increase clinician awareness of tHe growing global problem of NTDT and TI, and discuss tHe current management strategies for tHese conditions.MetHods:Recent peer-reviewed articles (publication years 2000 tHrougH 2015) addressing tHe epidemiology, complications, management, and monitoring of NTDT were identified in tHe PubMed database and reviewed.Results:THe cHanging epidemiology of tHalassemia constitutes a growing HealtH problem. Increased clinician awareness is necessary for tHe appropriate diagnosis and management of patients witH NTDT.Conclusions:Management of NTDT requires a compre...

  • non transfusion dependent tHalassemias
    Haematologica, 2013
    Co-Authors: Khaled M Musallam, Elliott Vichinsky, Stefano Rivella, Eliezer A Rachmilewitz
    Abstract:

    Non-transfusion-dependent tHalassemias include a variety of pHenotypes tHat, unlike patients witH beta (β)-tHalassemia major, do not require regular transfusion tHerapy for survival. THe most commonly investigated forms are β-tHalassemia intermedia, Hemoglobin E/β-tHalassemia, and α-tHalassemia intermedia (Hemoglobin H disease). However, transfusion-independence in sucH patients is not witHout side effects. Ineffective erytHropoiesis and peripHeral Hemolysis, tHe Hallmarks of disease process, lead to a variety of subsequent patHopHysiologies including iron overload and Hypercoagulability tHat ultimately lead to a number of serious clinical morbidities. THus, prompt and accurate diagnosis of non-transfusion-dependent tHalassemia is essential to ensure early intervention. AltHougH several management options are currently available, tHe need to develop more novel tHerapeutics is justified by recent advances in our understanding of tHe mecHanisms of disease. SucH efforts require wide international collaboration, especially since non-transfusion-dependent tHalassemias are no longer bound to low- and middle-income countries but Have spread to large multietHnic cities in Europe and tHe Americas due to continued migration.

  • Heterogeneity of Hemoglobin H disease in cHildHood
    The New England Journal of Medicine, 2011
    Co-Authors: Ashutosh Lal, Sylvia T Singer, Michael Lee Goldrich, Drucilla Haines, Mahin Azimi, Elliott Vichinsky
    Abstract:

    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.

Yoklam Kwong - One of the best experts on this subject based on the ideXlab platform.

James M. Perrin - One of the best experts on this subject based on the ideXlab platform.

  • WeigHing tHe evidence for newborn screening for Hemoglobin H disease.
    The Journal of pediatrics, 2010
    Co-Authors: Alex R. Kemper, Alixandra A. Knapp, Danielle R. Metterville, Anne Marie Comeau, Nancy S. Green, James M. Perrin
    Abstract:

    Objective To conduct a systematic review to assist tHe United States Secretary of HealtH and Human Services Advisory Committee on Heritable Disorders in Newborns and CHildren (SACHDNC) to determine wHetHer Hemoglobin H screening sHould be included among tHe core recommended conditions for newborn screening. Study design We identified 21 articles in MEDLINE from 1989 to MarcH 2010 tHat provided evidence regarding screening, treatment, and outcomes associated witH Hemoglobin H disease. Results In California, newborn screening Has identified 9 cases per 100 000 of deletional Hemoglobin H disease and 0.6 cases per 100 000 of nondeletional Hemoglobin H disease. Five cases of Hemoglobin Bart's Hydrops fetalis syndrome were also identified in over ten years of screening for Hemoglobin H disease. AltHougH Hemoglobin H disease is associated witH a wide range of morbidity, no studies were found tHat evaluated tHe benefits of early identification and treatment. Conclusions THe SACHDNC found tHe data insufficient to recommend tHat states adopt newborn screening for Hemoglobin H disease.

Voravarn S Tanphaichitr - One of the best experts on this subject based on the ideXlab platform.

Edmond S K - One of the best experts on this subject based on the ideXlab platform.