MCID: HMG004
MIFTS: 34

Hemoglobin D Disease

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Hemoglobin D Disease

MalaCards integrated aliases for Hemoglobin D Disease:

Name: Hemoglobin D Disease 12 59 15 72
Hb-D Disease 12
Hemoglobin D 6

Characteristics:

Orphanet epidemiological data:

59
hemoglobin d disease
Age of onset: Childhood;

Classifications:



External Ids:

Disease Ontology 12 DOID:5378
NCIt 50 C35344
SNOMED-CT 68 66729008
ICD10 33 D58.2
ICD10 via Orphanet 34 D58.2
UMLS via Orphanet 73 C0272080
Orphanet 59 ORPHA90039
UMLS 72 C0272080

Summaries for Hemoglobin D Disease

MalaCards based summary : Hemoglobin D Disease, also known as hb-d disease, is related to thalassemia and beta-thalassemia. An important gene associated with Hemoglobin D Disease is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways is Factors involved in megakaryocyte development and platelet production. Affiliated tissues include liver, testes and brain.

Related Diseases for Hemoglobin D Disease

Diseases in the Hemoglobin H Disease family:

Hemoglobin C Disease Hemoglobin D Disease
Hemoglobin E Disease Hemoglobin Se Disease

Diseases related to Hemoglobin D Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 thalassemia 30.1 HBD HBB
2 beta-thalassemia 29.7 HBD HBB
3 hemoglobinopathy 29.5 HBD HBB
4 sickle cell disease 29.2 HBD HBB
5 hemoglobin h disease 28.8 HBD HBB
6 sickle cell - hemoglobin d disease 12.6
7 gestational diabetes 10.0
8 hemolytic anemia 10.0
9 acute chest syndrome 10.0
10 sickle cell anemia 9.9
11 thrombophilia due to thrombin defect 9.8
12 hematopoietic stem cell transplantation 9.8
13 gilbert syndrome 9.8
14 nuclear ribonucleic acid 9.8
15 alpha-thalassemia 9.8
16 deficiency anemia 9.8
17 microcytic anemia 9.8
18 thrombocytopenia 9.8
19 bilirubin metabolic disorder 9.8
20 47,xyy 9.8
21 splenomegaly 9.8
22 hemoglobin lepore-beta-thalassemia syndrome 9.7 HBD HBB
23 malignant secondary hypertension 9.7 HBD HBB
24 hemoglobin c disease 9.7 HBD HBB
25 hemoglobin e disease 9.7 HBD HBB
26 osgood-schlatter's disease 9.6 HBD HBB
27 fetal hemoglobin quantitative trait locus 1 9.6 HBD HBB
28 kluver-bucy syndrome 9.6 HBD HBB
29 malignant essential hypertension 9.6 HBD HBB
30 blind loop syndrome 9.6 HBD HBB
31 pleuropneumonia 9.6 HBD HBB
32 blood protein disease 9.5 HBD HBB
33 alpha thalassemia-intellectual disability syndrome type 1 9.5 HBD HBB
34 congenital hemolytic anemia 9.3 HBD HBB
35 autosomal genetic disease 9.1 HBD HBB

Graphical network of the top 20 diseases related to Hemoglobin D Disease:



Diseases related to Hemoglobin D Disease

Symptoms & Phenotypes for Hemoglobin D Disease

Drugs & Therapeutics for Hemoglobin D Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase Ib, Dose-finding and Pharmacodynamic Study of NVX-508 in Sickle Cell Disease Patients Withdrawn NCT03013426 Phase 1 NVX-508
2 Sickle Cell Anemia - A Comparative Study Between Three Ethnical Communities, a Multicenter Study. Clinical and Genetic Characteristics of Sickle Cell Anemia (SCA) Patients in Three Different Communities. Unknown status NCT01905787

Search NIH Clinical Center for Hemoglobin D Disease

Genetic Tests for Hemoglobin D Disease

Anatomical Context for Hemoglobin D Disease

MalaCards organs/tissues related to Hemoglobin D Disease:

41
Liver, Testes, Brain, Bone, Bone Marrow, T Cells, Fetal Liver

Publications for Hemoglobin D Disease

Articles related to Hemoglobin D Disease:

(show top 50) (show all 173)
# Title Authors PMID Year
1
Sickle cell-hemoglobin D Iran: benign sickle cell syndrome. 38 71
7073867 1982
2
Two variants of hemoglobin D in the algerian population: hemoglobin D Ouled Rabah 19 (BI) Asn leads to Lys and hemoglobin D Iran 22 (Br) Glu leads to Gln. 38 71
4719147 1973
3
Hb D-Agri [beta9(A6)Ser --> Tyr;beta121(GH4)Glu --> Gln]: a new Indian hemoglobin variant with two amino acid substitutions in the same beta chain. 71
11570725 2001
4
Haemoglobin D-Ouled Rabah among the Mozabites: a relevant variant to trace the origin of Berber-speaking populations. 71
9450184 1997
5
Discrimination of Hb D Los Angeles (B121 Glu-Gln) and Hb Beograd (B121 Glu-Val) by dual restriction enzyme analysis. 71
7717379 1995
6
Locus assignment of two alpha-globin structural mutants from the Caribbean basin: alpha Fort de France (alpha 45 Arg) and alpha Spanish Town (alpha 27 Val). 71
2752146 1989
7
Hb D-Ouled Rabah [beta 19(B1)Asn----Lys]. A rare beta chain variant found in a Chinese family. 71
3384702 1988
8
Hemoglobin kenitra alpha 2 beta 2 69 (E13) Gly----Arg. A new beta variant of elevated expression associated with alpha-thalassemia, found in a Moroccan woman. 71
3838975 1985
9
The occurrence of the alpha G-Philadelphia-globin allele on a double-locus chromosome. 71
6198906 1984
10
A silent hemoglobin variant detected by HPLC: hemoglobin City of Hope beta 69 (E13) Gly----Ser. 71
6434492 1984
11
Alpha-globin gene deletions associated with alpha A and alpha G Philadelphia in an Algerian family that includes two Hb G homozygotes. 71
6199285 1984
12
Proportion of hemoglobin G Philadelphia (alpha 268 Asn leads to Lys beta 2) in heterozygotes is determined by alpha-globin gene deletions. 71
6935689 1980
13
Linkage of alpha G-Philadelphia to alpha-thalassemia in African-Americans . 71
6933536 1980
14
Haemoglobin G Szuhu beta 80 asn leads to lys in an English family. 71
1176123 1975
15
Haemoglobin Camperdown beta104(G6) arginine leads to serine. 71
1138922 1975
16
Hemoglobin Beograd (alpha2beta2 121 Glu leads to Val) interacting with beta-thalassemia. 71
809962 1975
17
Hemoglobin Beograd or alpha 2 beta 2 121 Glu-Val (GH4). 71
4761994 1973
18
Haemoglobin variant in a Bushman: haemoglobin D-beta-Bushman-alpha-beta-22-16-gly-arg. 71
6082467 1967
19
A NEW HAEMOGLOBIN, D IBADAN (BETA-87 THREONINE -- LYSINE), PRODUCING NO SICKLE-CELL HAEMOGLOBIN D DISEASE WITH HAEMOGLOBIN S. 71
14311973 1965
20
THE AMINO ACID COMPOSITION OF HEMOGLOBIN. VI. SEPARATION OF THE TRYPTIC PEPTIDES OF HEMOGLOBIN KNOXVILLE NO. I ON DOWEX-I X-2 AND SEPHADEX. 71
14289041 1965
21
Some aspects of the chemistry and function of human and animal hemoglobins. 71
5324987 1965
22
THE CHEMICAL INVESTIGATION OF HAEMOGLOBINS GBRISTOL AND GBRISTO C. 71
14166851 1964
23
Four hemoglobins in each of three brothers. Genetic and biochemical significance. 71
13999302 1962
24
Alpha, beta and gamma hemoglobin polypeptide chains during the neonatal period with description of a fetal form of hemoglobin Da-St. Louis. 71
14474345 1962
25
The polypeptide chains of haemoglobin-A2 and haemoglobin-G2. 71
13716549 1961
26
Abnormal human haemoglobins. V. Chemical investigation of haemoglobins A, G, C, X from one individual. 71
13685865 1961
27
The abnormal polypeptide chains in a number of haemoglobin variants. 71
13703277 1961
28
Four haemoglobins in one individual. A study of the genetic interaction of Hb-G and Hb-C. 71
13739559 1960
29
A variety of human hemoglobin with 4 distinct electrophoretic components. 71
13795009 1960
30
Stanleyville I and II: two new variants of adult haemoglobin. 71
13816361 1959
31
Risk factors for coronary artery ectasia and the relationship between hyperlipidemia and coronary artery ectasia. 38
30741741 2019
32
Coinheritance of hemoglobin D-Punjab and β0-thalassemia 3.4 kb deletion in a Thai girl. 38
28970692 2017
33
[Molecular identification of Hemoglobin D Punjab in cases detected in two families]. 38
27819792 2016
34
[The characteristics of the new indices of hemogram under liver cirrhosis]. 38
30615334 2016
35
Clinical, hematological and genetic data of a cohort of children with hemoglobin SD. 38
27521862 2016
36
Interference of hemoglobin D Punjab on measurements of glycated hemoglobin. 38
26549100 2015
37
Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis. 38
25818823 2015
38
β-Globin gene cluster haplotypes of Hb D-Los Angeles in Mazandaran Province, Iran. 38
26119666 2015
39
Compound heterozygous hemoglobin d-punjab/hemoglobin d-iran: a novel hemoglobinopathy. 38
25332633 2014
40
The effect of hydroxyurea on compound heterozygotes for sickle cell-hemoglobin D-Punjab--a single centre experience in eastern India. 38
24616059 2014
41
Evaluation of the Sebia CAPILLARYS 2 flex piercing for the measurement of HbA(1c) on venous and capillary blood samples. 38
24838332 2014
42
The prevalence of anemia and hemoglobinopathies in the hematologic clinics of the kermanshah province, Western iran. 38
24800037 2014
43
Double heterozygous hemoglobin Q India/hemoglobin D Punjab hemoglobinopathy: Report of two rare cases. 38
24497718 2013
44
Usage of U7 small nuclear ribonucleic acid in gene therapy of hemoglobin D Punjab disorder: Rationale? 38
24339540 2013
45
Pulmonary thromboembolism in a child with sickle cell hemoglobin d disease in the setting of acute chest syndrome. 38
24159402 2013
46
Identification of hemoglobin variants in samples received for glycated hemoglobin testing. 38
23117032 2013
47
Effects of hemoglobin D and E on the measurement of HbA1c with the modified Menarini/ARKRAY ADAMS A1c HA-8180V analyser. 38
23010358 2012
48
Interference of hemoglobin D on measurements of hemoglobin A1c by the high-performance liquid chromatography HA-8160 in 27 patients. 38
23063052 2012
49
Interaction of - α 3.7, ß Thalassemia Mutation IVS 1-5 and HbD Punjab in a Family: A Case Report. 38
26405395 2012
50
Predicting outcomes after traumatic brain injury: the development and validation of prognostic models based on admission characteristics. 38
22743383 2012

Variations for Hemoglobin D Disease

ClinVar genetic disease variations for Hemoglobin D Disease:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HBB NM_000518.4(HBB): c.365A> T (p.Glu122Val) single nucleotide variant other rs33987957 11:5246907-5246907 11:5225677-5225677
2 HBB NM_000518.5(HBB): c.49G> C (p.Gly17Arg) single nucleotide variant other rs63751285 11:5248203-5248203 11:5226973-5226973
3 HBB NM_000518.5(HBB): c.60C> A (p.Asn20Lys) single nucleotide variant other rs63750840 11:5248192-5248192 11:5226962-5226962
4 HBB NM_000518.4(HBB): c.365A> C (p.Glu122Ala) single nucleotide variant other rs33987957 11:5246907-5246907 11:5225677-5225677
5 HBB NM_000518.4(HBB): c.29C> A (p.Ser10Tyr) single nucleotide variant other rs33918131 11:5248223-5248223 11:5226993-5226993
6 HBA2 NM_000517.6(HBA2): c.207C> R (p.Asn69Lys) single nucleotide variant other rs111033601 16:223235-223235 16:173236-173236
7 HBB NM_000518.4(HBB): c.67G> C (p.Glu23Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs33959855 11:5248185-5248185 11:5226955-5226955
8 HBB NM_000518.4(HBB): c.364G> C (p.Glu122Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs33946267 11:5246908-5246908 11:5225678-5225678
9 HBB NM_000518.4(HBB): c.68A> T (p.Glu23Val) single nucleotide variant Uncertain significance rs33936254 11:5248184-5248184 11:5226954-5226954
10 HBB NM_000518.4(HBB): c.263C> A (p.Thr88Lys) single nucleotide variant Likely benign rs33993568 11:5247859-5247859 11:5226629-5226629

Expression for Hemoglobin D Disease

Search GEO for disease gene expression data for Hemoglobin D Disease.

Pathways for Hemoglobin D Disease

Pathways related to Hemoglobin D Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.82 HBD HBB

GO Terms for Hemoglobin D Disease

Cellular components related to Hemoglobin D Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.16 HBD HBB
2 hemoglobin complex GO:0005833 9.13 HBQ1 HBD HBB
3 haptoglobin-hemoglobin complex GO:0031838 8.8 HBQ1 HBD HBB

Biological processes related to Hemoglobin D Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular oxidant detoxification GO:0098869 9.43 HBQ1 HBD HBB
2 blood coagulation GO:0007596 9.32 HBD HBB
3 hydrogen peroxide catabolic process GO:0042744 9.13 HBQ1 HBD HBB
4 protein heterooligomerization GO:0051291 8.85 HBB
5 oxygen transport GO:0015671 8.8 HBQ1 HBD HBB

Molecular functions related to Hemoglobin D Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.58 HBQ1 HBD HBB
2 oxygen binding GO:0019825 9.5 HBQ1 HBD HBB
3 peroxidase activity GO:0004601 9.43 HBQ1 HBD HBB
4 hemoglobin alpha binding GO:0031721 9.37 HBD HBB
5 oxygen carrier activity GO:0005344 9.33 HBQ1 HBD HBB
6 organic acid binding GO:0043177 9.13 HBQ1 HBD HBB
7 haptoglobin binding GO:0031720 8.8 HBQ1 HBD HBB

Sources for Hemoglobin D Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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