Details of Disease

General Information of Disease (ID: DISHFWO5)

Disease Name Hemoglobin H disease
Synonyms
HEMOGLOBIN H disease; Hemoglobin H disease, Nondeletional; Alpha-thalassemia, Haemoglobin H type; Hemoglobin H disease, Deletional; Haemoglobin H disease, Deletional; Haemoglobin H disease, Nondeletional; Alpha-thalassemia, Hemoglobin H type; HbH disease; hemoglobin H disease, deletional and nondeletional; hemoglobin H disease, deletional; Alpha-thalassemia intermedia; haemoglobin H disease, deletional; alpha-thalassemia intermedia; alpha thalassemia, hemoglobin H type; alpha thalassemia, haemoglobin H type; HbH; haemoglobin H disease, deletional and nondeletional; hemoglobin H disease
Definition Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia.
Disease Hierarchy
DIS5XGK0: Alpha thalassemia
DISHFWO5: Hemoglobin H disease
Disease Identifiers
MONDO ID
MONDO_0013512
UMLS CUI
C3161174
OMIM ID
613978
MedGen ID
468531
Orphanet ID
93616
SNOMED CT ID
48553001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
HBA2 TTQO71U Supportive Autosomal recessive [1]
HBB TTM6HK1 Strong Genetic Variation [2]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
TPMT DEFQ8VO moderate Altered Expression [3]
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This Disease Is Related to 14 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HBA2 OTW2BQF4 Supportive Autosomal recessive [1]
AHSP OTTHBSUS moderate Altered Expression [4]
AP5Z1 OTXIPLFH Strong Genetic Variation [5]
ATRX OT77RSQW Strong Genetic Variation [6]
CDAN1 OTCVZRG6 Strong Altered Expression [7]
COL9A2 OT1ZBDBV Strong Genetic Variation [8]
COL9A3 OTCUJOEK Strong Genetic Variation [8]
FASTK OTTHFZMP Strong Genetic Variation [9]
HBZ OTMHGFSS Strong Biomarker [10]
KLF1 OT1FK08U Strong Genetic Variation [2]
PMCH OT3D9SA4 Strong Biomarker [11]
PSMA5 OT38E6Y1 Strong Genetic Variation [5]
TFR2 OTMYCCEO Strong Genetic Variation [12]
TSPYL2 OTGGW2EF Strong Altered Expression [7]
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⏷ Show the Full List of 14 DOT(s)

References

1 Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
2 Changes in hematological parameters in -thalassemia individuals co-inherited with erythroid Krppel-like factor mutations.Clin Genet. 2015 Jul;88(1):56-61. doi: 10.1111/cge.12443. Epub 2014 Jul 26.
3 Stocco G, Martelossi S, Arrigo S, Barabino A, Aloi M, Martinelli M, Miele E, Knafelz D, Romano C, Naviglio S, Favretto D, Cuzzoni E, Franca R, Decorti G, Ventura A: Multicentric Case-Control Study on Azathioprine Dose and Pharmacokinetics in Early-onset Pediatric Inflammatory Bowel Disease. Inflamm Bowel Dis. 2017 Apr;23(4):628-634. doi: 10.1097/MIB.0000000000001051.
4 A molecular study on the role of alpha-hemoglobin-stabilizing protein in hemoglobin H disease.Ann Hematol. 2017 Jun;96(6):1005-1014. doi: 10.1007/s00277-017-2978-x. Epub 2017 Mar 23.
5 A new gene deletion in the alpha-like globin gene cluster as the molecular basis for the rare alpha-thalassemia-1(--/alpha alpha) in blacks: HbH disease in sickle cell trait.Blood. 1986 Feb;67(2):469-73.
6 A diagnosis of discernment: Identifying a novel ATRX mutation in myelodysplastic syndrome with acquired -thalassemia.Cancer Genet. 2019 Feb;231-232:36-40. doi: 10.1016/j.cancergen.2019.01.002. Epub 2019 Jan 9.
7 A novel case of haemoglobin H disease associated with clinical and morphological characteristics of congenital dyserythropoietic anaemia type I.Eur J Haematol. 2002 Apr;68(4):247-52. doi: 10.1034/j.1600-0609.2002.01590.x.
8 HbH disease associated with the (--MED) deletion in a Brazilian black woman.Acta Haematol. 1992;87(3):145-7. doi: 10.1159/000204741.
9 Relationship between neonatal screening results by HPLC and the number of -thalassaemia gene mutations; consequences for the cut-off value.J Med Screen. 2011;18(4):182-6. doi: 10.1258/jms.2011.011043.
10 Prenatal diagnosis of Chinese homozygous alpha-thalassaemia 1 and haemoglobin H disease by analysis of alpha- and phi zeta-globin genes in chorionic villi and amniocytes.Prenat Diagn. 1989 Oct;9(10):715-25. doi: 10.1002/pd.1970091007.
11 Iranian patients with hemoglobin H disease: genotype-phenotype correlation.Mol Biol Rep. 2019 Oct;46(5):5041-5048. doi: 10.1007/s11033-019-04955-9. Epub 2019 Jul 4.
12 Can defects in transferrin receptor 2 and hereditary hemochromatosis genes account for iron overload in HbH disease?.Blood Cells Mol Dis. 2003 Jan-Feb;30(1):107-11. doi: 10.1016/s1079-9796(03)00013-5.