University of Oulu

Arvio, M, Lähdetie, J. Natural history of alpha-thalassemia X-linked intellectual disability syndrome: A case report of a 45-year-old man. Am J Med Genet Part A. 2021; 185A: 2164– 2167.

Natural history of alpha-thalassemia X-linked intellectual disability syndrome : a case report of a 45-year-old man

Saved in:
Author: Arvio, Maria1,2,3,4; Lähdetie, Jaana4
Organizations: 1Päijät-Häme Joint Municipal Authority, Neurology, Lahti, Finland
2PEDEGO, Oulu University Hospital, Finland
3KTO-Southwest Special Care Municipal Authority, Paimio, Finland
4Department of Child Neurology, Turku University, Turku University Central Hospital, Turku, Finland
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 1.3 MB)
Persistent link:
Language: English
Published: John Wiley & Sons, 2021
Publish Date: 2021-09-16


We have followed the clinical course of a 45-year-old man with a severe form of alpha-thalassemia X-linked intellectual disability syndrome for 40 years. The most challenging health issue is the combination of rumination, drooling, and vomiting. The patient achieved present adaptive and motor skills in his teenage years. He is able to move on the floor in a sitting position. He seems happy and has not shown any behavioral or psychiatric symptoms. New signs not described in the literature before are accelerated growth after puberty and atypical sleeping position with upper body resting on legs.

see all

Series: American journal of medical genetics. Part A
ISSN: 1552-4825
ISSN-E: 1552-4833
ISSN-L: 1552-4825
Volume: 185
Issue: 7
Pages: 2164 - 2167
DOI: 10.1002/ajmg.a.62213
Type of Publication: B1 Journal article
Field of Science: 1184 Genetics, developmental biology, physiology
Copyright information: © 2021 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.