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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:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Gene (location): 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
Myelodysplasia
MedGen UID:
10231
•Concept ID:
C0026985
•
Congenital Abnormality
Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.
See: Feature record | Search on this feature
HbH hemoglobin
MedGen UID:
42397
•Concept ID:
C0019026
•
Biologically Active Substance
Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia.
See: Search on this feature
Hypochromic microcytic anemia
MedGen UID:
124413
•Concept ID:
C0271901
•
Disease or Syndrome
A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.
See: Feature record | Search on this feature
Reduced alpha/beta synthesis ratio
MedGen UID:
868731
•Concept ID:
C4023136
•
Finding
A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcquired hemoglobin H disease
Follow this link to review classifications for Acquired hemoglobin H disease in Orphanet.

Professional guidelines

PubMed

Non‑invasive prenatal diagnosis of thalassemia through multiplex PCR, target capture and next‑generation sequencing.
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
After the introduction into the national newborn screening program: who is receiving genetic counseling for hemoglobinopathies in the Netherlands?
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
Understanding alpha-globin gene regulation: Aiming to improve the management of thalassemia.
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

Acquired hemoglobin H disease in a case of refractory anemia with excess of blasts (RAEB) evolving into acute nonlymphoid leukemia.
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
Acquired hemoglobin H disease in idiopathic myelofibrosis.
Veer A, Kosciolek BA, Bauman AW, Rowley PT
Am J Hematol 1979;6(3):199-206. doi: 10.1002/ajh.2830060304. PMID: 484543
Acquired hemoglobin H disease.
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

Acquired hemoglobin H disease in a patient with aplastic anemia evolving into acute myeloid leukemia.
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

Clinical features and molecular analysis of acquired hemoglobin H disease.
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

    • PubMed
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      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

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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