Clinical hemoglobinopathies: iron, lungs and new blood.
OBJECTIVE
Sickle cell disease and beta-thalassemia major are clinically significant hereditary anemias that elicit worldwide attention due to the frequency and severity of these disorders. Historically, most children who inherited these disorders died in the first decade of life. Recently, however, supportive care has extended lifespan through the fifth decade of life and beyond, with survival through early adulthood now indistinguishable from those unaffected by these disorders. As a result, chronic health impairments that significantly reduce the quality of life such as pulmonary hypertension and the consequences of transfusional iron overload have become principal challenges.


RESULTS
We focus on important recent advances that are very likely to alter the nature of supportive care of these disorders or make it possible to identify prospectively high-risk patients who might benefit from novel therapies or even curative treatment in the form of hematopoietic cell transplantation. The availability of the latter, traditionally constrained by the requirement of a human leukocyte antigen-identical sibling donor, is very likely to be broadened as results after unrelated donor hematopoietic cell transplantation improve.


CONCLUSIONS
In this review, several areas that are very likely to have a significant impact in the management of patients who inherit these disorders are discussed.
Morris
Claudia R
CR
Children's Hospital & Research Center Oakland, Oakland, CA 94609, USA.
Singer
Sylvia T
ST
Walters
Mark C
MC
D000755:Anemia, Sickle Cell / Q000150:complications / Q000503:physiopathology / Q000628:therapy*; D001120:Arginine / Q000378:metabolism; D002648:Child; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods* / Q000639:trends; D006801:Humans; D006976:Hypertension, Pulmonary / Q000209:etiology / Q000517:prevention & control; D007502:Iron Chelating Agents / Q000494:pharmacology*; D019190:Iron Overload / Q000517:prevention & control; D011379:Prognosis; D017086:beta-Thalassemia / Q000150:complications / Q000628:therapy*
D007502:Iron Chelating Agents; D001120:Arginine