U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Alpha-thalassemia-related diseases

MedGen UID:
797334
•Concept ID:
CN201534
•
Disease or Syndrome
Synonyms: alpha-thalassemia-related diseases; Syndrome with alpha-thalassemia as a major feature
 
Monarch Initiative: MONDO:0016513
Orphanet: ORPHA232288

Definition

This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAlpha-thalassemia-related diseases
Follow this link to review classifications for Alpha-thalassemia-related diseases in Orphanet.

Recent clinical studies

Etiology

Causal links of α-thalassemia indices and cardiometabolic traits and diabetes: MR study.
Hsu LA, Wu S, Teng MS, Ko YL
Life Sci Alliance 2023 Dec;6(12) Epub 2023 Oct 3 doi: 10.26508/lsa.202302204. PMID: 37788909Free PMC Article

Therapy

Causal links of α-thalassemia indices and cardiometabolic traits and diabetes: MR study.
Hsu LA, Wu S, Teng MS, Ko YL
Life Sci Alliance 2023 Dec;6(12) Epub 2023 Oct 3 doi: 10.26508/lsa.202302204. PMID: 37788909Free PMC Article

Prognosis

Causal links of α-thalassemia indices and cardiometabolic traits and diabetes: MR study.
Hsu LA, Wu S, Teng MS, Ko YL
Life Sci Alliance 2023 Dec;6(12) Epub 2023 Oct 3 doi: 10.26508/lsa.202302204. PMID: 37788909Free PMC Article

Clinical prediction guides

Causal links of α-thalassemia indices and cardiometabolic traits and diabetes: MR study.
Hsu LA, Wu S, Teng MS, Ko YL
Life Sci Alliance 2023 Dec;6(12) Epub 2023 Oct 3 doi: 10.26508/lsa.202302204. PMID: 37788909Free PMC Article

Supplemental Content

Table of contents

    Genetic Testing Registry

    Clinical resources

    Practice guidelines

    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...