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Acquired hemoglobin H disease(ATMDS)

MedGen UID:
108433
Concept ID:
C0585216
Neoplastic Process
Synonyms: Alpha-thalassemia myelodysplasia syndrome; Alpha-thalassemia myelodysplasia syndrome, somatic; Alpha-thalassemia-myelodysplastic syndrome; ATMDS
SNOMED CT: Acquired hemoglobin H disease (307343001)
Modes of inheritance:
 
ATRX (Xq21.1)
 
Monarch Initiative: MONDO:0010328
OMIM®: 300448
Orphanet: ORPHA231401

Definition

An acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH). [from ORDO]

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcquired hemoglobin H disease

Professional guidelines

PubMed

Yang X, Ye Y, Fan D, Lin S, Li M, Hou H, Zhang J, Yang X
Mol Med Rep 2020 Aug;22(2):1547-1557. Epub 2020 Jun 15 doi: 10.3892/mmr.2020.11234. PMID: 32627040Free PMC Article
Kaufmann JO, Krapels IP, Van Brussel BT, Zekveld-Vroon RC, Oosterwijk JC, van Erp F, van Echtelt J, Zwijnenburg PJ, Petrij F, Bakker E, Giordano PC
Public Health Genomics 2014;17(1):16-22. Epub 2013 Nov 8 doi: 10.1159/000355223. PMID: 24216604
Higgs DR, Garrick D, Anguita E, De Gobbi M, Hughes J, Muers M, Vernimmen D, Lower K, Law M, Argentaro A, Deville MA, Gibbons R
Ann N Y Acad Sci 2005;1054:92-102. doi: 10.1196/annals.1345.012. PMID: 16339655

Recent clinical studies

Diagnosis

Annino L, Di Giovanni S, Tentorì L Jr, Cafolla A, Nanni Costa MP, Salvagnini ML, Angeli G
Acta Haematol 1984;72(1):41-4. doi: 10.1159/000206355. PMID: 6433631
Veer A, Kosciolek BA, Bauman AW, Rowley PT
Am J Hematol 1979;6(3):199-206. doi: 10.1002/ajh.2830060304. PMID: 484543
Hamilton RW, Schwartz E, Atwater J, Erslev AJ
N Engl J Med 1971 Nov 25;285(22):1217-21. doi: 10.1056/NEJM197111252852202. PMID: 5113710

Prognosis

Figueiredo MS, Vicari P, Kimura EY, Antunes SV, Yamamoto M
Sao Paulo Med J 2004 Nov 4;122(6):273-5. Epub 2005 Feb 2 doi: 10.1590/s1516-31802004000600009. PMID: 15692723Free PMC Article

Clinical prediction guides

Higgs DR, Wood WG, Barton C, Weatherall DJ
Am J Med 1983 Aug;75(2):181-91. doi: 10.1016/0002-9343(83)91189-0. PMID: 6881169

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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