Transfusion requirements and complication rate in β-thalassemia intermedia due to heterozygous β-globin gene mutation and triplicated α-globin genes.
thalassemia
α-globin gene triplication
β-thalassemia intermedia
Journal
European journal of haematology
ISSN: 1600-0609
Titre abrégé: Eur J Haematol
Pays: England
ID NLM: 8703985
Informations de publication
Date de publication:
Nov 2023
Nov 2023
Historique:
revised:
18
07
2023
received:
09
06
2023
accepted:
19
07
2023
medline:
3
10
2023
pubmed:
31
7
2023
entrez:
31
7
2023
Statut:
ppublish
Résumé
The heterozygous condition for β-thalassemia mutation associated with an extra functional α-globin gene can produce a Thalassemia Intermedia (TI) phenotype. This genotype is the second in frequency in the French Thalassemia Registry NaThalY that prospectively collects laboratory and clinical data. The present report analyses transfusion needs, iron overload (ferritin, hepatic and cardiac iron concentrations), and complication rates in 45 patients included in NaThalY and presenting a heterozygous β Patients with an extra functional α-globin gene showed a less severe anemia, lower transfusion needs and lower complication rates than those with TI related to the β-globin gene only. Nevertheless, some of them displayed complications such as cholelithiasis or extramedullary hematopoiesis. In addition, one third of the cohort needed transfusions and another third was under iron chelation. The genotype associating a heterozygous β
Substances chimiques
alpha-Globins
0
Iron
E1UOL152H7
beta-Globins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
742-747Subventions
Organisme : Maladies Constitutionnelles du Globule Rouge et de l'Erythropoïese
Investigateurs
Slimane Allali
(S)
Shanti Ame
(S)
Sai Atmani
(S)
Dora Bachir
(D)
Pablo Bartolucci
(P)
Marie Belloy
(M)
Emmanuelle Bernit
(E)
Anne Besancon-Bergelin
(A)
Michel Blanc
(M)
Jean-François Brasme
(JF)
Valentine Brousse
(V)
Giovanna Cannas
(G)
Thibault Comont
(T)
Mohamed Conde
(M)
Marie-Laure Couec
(ML)
Pierre Cougoul
(P)
Marianne De-Montalembert
(M)
Jean Donadieu
(J)
Antoine Dossier
(A)
Sylvie Fasola
(S)
Benoit Faucher
(B)
Frederic Galacteros
(F)
Nathalie Garnier
(N)
Alexandra Gauthier
(A)
Justine Gellen-Dautremer
(J)
François Girodon
(F)
Fanny Gonzales
(F)
Isabelle Guichard
(I)
Henri Guillet
(H)
Corinne Guitton
(C)
Anoosha Habibi
(A)
Laurent Holvoet
(L)
Arnaud Hot
(A)
Yoann Huguenin
(Y)
Ghislaine Ithier
(G)
Estelle Jean
(E)
Florence Lachenal
(F)
Agnes Lahary
(A)
Anne Lambilliotte
(A)
Franciska Lange
(F)
Thierry Leblanc
(T)
Agnes Lehnert
(A)
Guy Leverger
(G)
Bruno Lioure
(B)
Laurence Lutz
(L)
Alexis Magda
(A)
Caroline Makowski
(C)
Paolo Malvezzi
(P)
Corina Manoli
(C)
Agathe Masseau
(A)
Caroline Masserot-Lureau
(C)
Catherine Mathey
(C)
Suzanne Mathieu
(S)
Sarah Mattioni
(S)
Marguerite Micheau
(M)
Gerard Michel
(G)
Florence Missud
(F)
Fabrice Monpoux
(F)
Robert Navarro
(R)
Stéphanie Ngo
(S)
Stanislas Nimubona
(S)
Corentin Orvain
(C)
Eric Oziol
(E)
Catherine Paillard
(C)
Brigitte Pegourie
(B)
Aurélie Phulpin
(A)
Christophe Piguet
(C)
Claire Pluchart
(C)
Corinne Pondarre
(C)
Cécile Renard
(C)
Jean-Antoine Ribeil
(JA)
Pierre-Simon Rohrlich
(PS)
Bertrand Soto
(B)
Alexandra Spiegel
(A)
Katia Stankovic
(K)
Dominique Steschenko
(D)
Laure Swiader
(L)
Caroline Thomas
(C)
Isabelle Thuret
(I)
Jean-Baptiste Valentin
(JB)
Ferielle Zenchri
(F)
Informations de copyright
© 2023 The Authors. European Journal of Haematology published by John Wiley & Sons Ltd.
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