Epidemiologic and clinical characteristics of nontransfusion-dependent thalassemia in the United States

Elliott Vichinsky*, Alan Cohen, Alexis A. Thompson, Patricia J. Giardina, Ashutosh Lal, Carole Paley, Wendy Y. Cheng, Nora McCormick, Medha Sasane, Ying Qiu, Janet L. Kwiatkowski

*Corresponding author for this work

Research output: Contribution to journalArticle

4 Citations (Scopus)

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.

Original languageEnglish (US)
Article numbere27067
JournalPediatric Blood and Cancer
Volume65
Issue number7
DOIs
StatePublished - Jul 1 2018

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Thalassemia
Hemoglobin H
Mutation
Iron Overload
Emigration and Immigration
African Americans
Early Diagnosis

Keywords

  • United States
  • clinical iron overload
  • epidemiology
  • nontransfusion-dependent thalassemia
  • thalassemia trait

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

Cite this

Vichinsky, Elliott ; Cohen, Alan ; Thompson, Alexis A. ; Giardina, Patricia J. ; Lal, Ashutosh ; Paley, Carole ; Cheng, Wendy Y. ; McCormick, Nora ; Sasane, Medha ; Qiu, Ying ; Kwiatkowski, Janet L. / Epidemiologic and clinical characteristics of nontransfusion-dependent thalassemia in the United States. In: Pediatric Blood and Cancer. 2018 ; Vol. 65, No. 7.
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title = "Epidemiologic and clinical characteristics of nontransfusion-dependent thalassemia in the United States",
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.",
keywords = "United States, clinical iron overload, epidemiology, nontransfusion-dependent thalassemia, thalassemia trait",
author = "Elliott Vichinsky and Alan Cohen and Thompson, {Alexis A.} and Giardina, {Patricia J.} and Ashutosh Lal and Carole Paley and Cheng, {Wendy Y.} and Nora McCormick and Medha Sasane and Ying Qiu and Kwiatkowski, {Janet L.}",
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Vichinsky, E, Cohen, A, Thompson, AA, Giardina, PJ, Lal, A, Paley, C, Cheng, WY, McCormick, N, Sasane, M, Qiu, Y & Kwiatkowski, JL 2018, 'Epidemiologic and clinical characteristics of nontransfusion-dependent thalassemia in the United States', Pediatric Blood and Cancer, vol. 65, no. 7, e27067. https://doi.org/10.1002/pbc.27067

Epidemiologic and clinical characteristics of nontransfusion-dependent thalassemia in the United States. / Vichinsky, Elliott; Cohen, Alan; Thompson, Alexis A.; Giardina, Patricia J.; Lal, Ashutosh; Paley, Carole; Cheng, Wendy Y.; McCormick, Nora; Sasane, Medha; Qiu, Ying; Kwiatkowski, Janet L.

In: Pediatric Blood and Cancer, Vol. 65, No. 7, e27067, 01.07.2018.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Epidemiologic and clinical characteristics of nontransfusion-dependent thalassemia in the United States

AU - Vichinsky, Elliott

AU - Cohen, Alan

AU - Thompson, Alexis A.

AU - Giardina, Patricia J.

AU - Lal, Ashutosh

AU - Paley, Carole

AU - Cheng, Wendy Y.

AU - McCormick, Nora

AU - Sasane, Medha

AU - Qiu, Ying

AU - Kwiatkowski, Janet L.

PY - 2018/7/1

Y1 - 2018/7/1

N2 - 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.

AB - 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.

KW - United States

KW - clinical iron overload

KW - epidemiology

KW - nontransfusion-dependent thalassemia

KW - thalassemia trait

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