Elliott Vichinsky1, Alan Cohen2, Alexis A Thompson3, Patricia J Giardina4, Ashutosh Lal1, Carole Paley5, Wendy Y Cheng6, Nora McCormick6, Medha Sasane5, Ying Qiu5, Janet L Kwiatkowski2. 1. Department of Hematology/Oncology, UCSF Benioff Children's Hospital Oakland, Oakland, California. 2. Division of Hematology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania. 3. Division of Hematology, Oncology, and Stem Cell Transplantation, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois. 4. Department of Hematology/Oncology, Weill Cornell Medical College, New York City, New York. 5. Department of Health Economics and Outcomes Research, Novartis Pharmaceuticals Corporation, East Hanover, New Jersey. 6. Analysis Group, Inc., Boston, Massachusetts.
Abstract
BACKGROUND: Nontransfusion-dependent thalassemia (NTDT) refers to a diverse group of thalassemia mutations and clinical phenotypes that do not require chronic transfusions. It is increasingly prevalent in the United States. PROCEDURE: This study reviews the epidemiology and clinical characteristics of 138 patients with NTDT treated at four US thalassemia centers from 1997 to 2014. Data on laboratory results, transfusions, and clinical complications were collected from patient charts. RESULTS: Overall, 84 patients with α-thalassemia (62 deletional hemoglobin H; 22 nondeletional hemoglobin H), 39 with β-thalassemia (26 with homozygous or double heterozygous β mutations; 13 with single β mutations with or without α triplication), and 15 with E/β-thalassemia (12 E/β0 ; three E/β+ ) were identified. At study entry, the median age for patients with α-thalassemia was 2.3 years; 9.2 years for patients with β-thalassemia and 2.2 years for patients with E/β-thalassemia. Most patients with α-thalassemia were Asian. Patients with β-thalassemia were predominantly Caucasian (46%) or of African descent (36%). Twenty percent of patients were born outside the United States and 5% were transfused before immigration. Complications varied by genotype and age. Individuals with nondeletional hemoglobin H were severely affected and, despite their young age, had many complications. Iron overload increased with age and was more common in patients who received transfusions. CONCLUSIONS: NTDT in the United States is a multi-ethnic disease with different genotypic mutations and phenotypic manifestations. A higher than expected proportion of patients was Black/African American. NTDT-related complications are common and increase with age, supporting a need for early diagnosis.
BACKGROUND: Nontransfusion-dependent thalassemia (NTDT) refers to a diverse group of thalassemia mutations and clinical phenotypes that do not require chronic transfusions. It is increasingly prevalent in the United States. PROCEDURE: This study reviews the epidemiology and clinical characteristics of 138 patients with NTDT treated at four US thalassemia centers from 1997 to 2014. Data on laboratory results, transfusions, and clinical complications were collected from patient charts. RESULTS: Overall, 84 patients with α-thalassemia (62 deletional hemoglobin H; 22 nondeletional hemoglobin H), 39 with β-thalassemia (26 with homozygous or double heterozygous β mutations; 13 with single β mutations with or without α triplication), and 15 with E/β-thalassemia (12 E/β0 ; three E/β+ ) were identified. At study entry, the median age for patients with α-thalassemia was 2.3 years; 9.2 years for patients with β-thalassemia and 2.2 years for patients with E/β-thalassemia. Most patients with α-thalassemia were Asian. Patients with β-thalassemia were predominantly Caucasian (46%) or of African descent (36%). Twenty percent of patients were born outside the United States and 5% were transfused before immigration. Complications varied by genotype and age. Individuals with nondeletional hemoglobin H were severely affected and, despite their young age, had many complications. Iron overload increased with age and was more common in patients who received transfusions. CONCLUSIONS:NTDT in the United States is a multi-ethnic disease with different genotypic mutations and phenotypic manifestations. A higher than expected proportion of patients was Black/African American. NTDT-related complications are common and increase with age, supporting a need for early diagnosis.
Authors: Ali Taher; Maria Domenica Cappellini; Vip Viprakasit; Pranee Sutcharitchan; Dalia Mahmoud; Abderrahmane Laadem; Anzalee Khan; Chad Gwaltney; Gale Harding; Kenneth Attie; Xiaosha Zhang; Jun Zou; Joseph Pariseau; X Henry Hu; Antonis Kattamis Journal: Am J Hematol Date: 2018-11-26 Impact factor: 10.047