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MCID: HMG004
MIFTS: 36

Hemoglobin D Disease

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways
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Aliases & Classifications for Hemoglobin D Disease

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MalaCards integrated aliases for Hemoglobin D Disease:

Name: Hemoglobin D Disease 12 58 15 71
Hb-D Disease 12
Hemoglobin D 6

Characteristics:

Orphanet epidemiological data:

58
hemoglobin d disease
Age of onset: Childhood;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Blood diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:5378
NCIt 49 C35344
SNOMED-CT 67 66729008
ICD10 32 D58.2
ICD10 via Orphanet 33 D58.2
UMLS via Orphanet 72 C0272080
Orphanet 58 ORPHA90039
UMLS 71 C0272080
Sources

Summaries for Hemoglobin D Disease

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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 are Response to elevated platelet cytosolic Ca2+ and Factors involved in megakaryocyte development and platelet production. Affiliated tissues include liver, bone and testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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Related Diseases for Hemoglobin D Disease

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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 44)
# Related Disease Score Top Affiliating Genes
1 thalassemia 30.4 HBQ1 HBE1 HBD HBB
2 beta-thalassemia 30.4 HBE1 HBD HBB
3 hemoglobinopathy 30.3 HBQ1 HBE1 HBD HBB
4 sickle cell disease 30.2 HBD HBB
5 hemoglobin h disease 29.0 SCN2A HBQ1 HBE1 HBD HBB
6 alpha-thalassemia 29.0 SCN2A HBQ1 HBE1 HBD HBB
7 sickle cell - hemoglobin d disease 12.6
8 hemoglobin lepore-beta-thalassemia syndrome 10.3 HBD HBB
9 neuropathy, hereditary sensory and autonomic, type iib 10.3 HBD HBB
10 malignant essential hypertension 10.3 HBD HBB
11 fetal hemoglobin quantitative trait locus 1 10.3 HBD HBB
12 splenic sequestration 10.2 SCN2A HBB
13 glucosephosphate dehydrogenase deficiency 10.2 HBE1 HBB
14 pyridoxine-responsive sideroblastic anemia 10.1 HBB GYPA
15 aneruptive fever 10.1 HBB ALB
16 kidney papillary necrosis 10.1 HBB ALB
17 gestational diabetes 10.0
18 hemolytic anemia 10.0
19 autoimmune disease of peripheral nervous system 10.0 HECTD4 ALB
20 acute chest syndrome 10.0
21 decubitus ulcer 10.0 HECTD4 ALB
22 compartment syndrome 10.0 HECTD4 ALB
23 hereditary elliptocytosis 9.9 HBE1 HBB GYPA
24 aspiration pneumonia 9.9 HECTD4 ALB
25 sickle cell anemia 9.9
26 deficiency anemia 9.9
27 chronic ulcer of skin 9.9 HECTD4 ALB
28 hemoglobin e disease 9.9 HBQ1 HBE1 HBD HBB
29 autosomal genetic disease 9.9 HBE1 HBB ALB
30 hemoglobin c disease 9.9 SCN2A HBE1 HBD HBB
31 thrombophilia due to thrombin defect 9.8
32 gilbert syndrome 9.8
33 nuclear ribonucleic acid 9.8
34 erythrocytosis, familial, 6 9.8
35 microcytic anemia 9.8
36 thrombocytopenia 9.8
37 bilirubin metabolic disorder 9.8
38 47,xyy 9.8
39 splenomegaly 9.8
40 pain agnosia 9.7 HECTD4 ALB
41 parasitic ectoparasitic infectious disease 9.7 BRD1 ALB
42 blood protein disease 9.7 SCN2A HBE1 HBB ALB
43 agnosia 9.6 HECTD4 ALB
44 retinitis pigmentosa 18 9.5 APEX1 ALB

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



Diseases related to Hemoglobin D Disease
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Symptoms & Phenotypes for Hemoglobin D Disease

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GenomeRNAi Phenotypes related to Hemoglobin D Disease according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.55 HBE1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.55 BRD1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.55 HBE1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.55 APEX1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.55 HBE1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.55 APEX1 HBE1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.55 APEX1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.55 APEX1 BRD1 HBE1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.55 BRD1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.55 HBE1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.55 BRD1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.55 APEX1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.55 BRD1 HBE1
Sources

Drugs & Therapeutics for Hemoglobin D Disease

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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. Active, not recruiting NCT01905787

Search NIH Clinical Center for Hemoglobin D Disease

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Genetic Tests for Hemoglobin D Disease

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Anatomical Context for Hemoglobin D Disease

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MalaCards organs/tissues related to Hemoglobin D Disease:

40
Liver, Bone, Testes, Bone Marrow, Brain, T Cells, Fetal Liver
Sources

Publications for Hemoglobin D Disease

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Articles related to Hemoglobin D Disease:

(show top 50) (show all 175)
# Title Authors PMID Year
1
Sickle cell-hemoglobin D Iran: benign sickle cell syndrome. 61 6
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. 61 6
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. 6
11570725 2001
4
Haemoglobin D-Ouled Rabah among the Mozabites: a relevant variant to trace the origin of Berber-speaking populations. 6
9450184 1997
5
Discrimination of Hb D Los Angeles (B121 Glu-Gln) and Hb Beograd (B121 Glu-Val) by dual restriction enzyme analysis. 6
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). 6
2752146 1989
7
Hb D-Ouled Rabah [beta 19(B1)Asn----Lys]. A rare beta chain variant found in a Chinese family. 6
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. 6
3838975 1985
9
The occurrence of the alpha G-Philadelphia-globin allele on a double-locus chromosome. 6
6198906 1984
10
Alpha-globin gene deletions associated with alpha A and alpha G Philadelphia in an Algerian family that includes two Hb G homozygotes. 6
6199285 1984
11
A silent hemoglobin variant detected by HPLC: hemoglobin City of Hope beta 69 (E13) Gly----Ser. 6
6434492 1984
12
Proportion of hemoglobin G Philadelphia (alpha 268 Asn leads to Lys beta 2) in heterozygotes is determined by alpha-globin gene deletions. 6
6935689 1980
13
Linkage of alpha G-Philadelphia to alpha-thalassemia in African-Americans . 6
6933536 1980
14
Haemoglobin G Szuhu beta 80 asn leads to lys in an English family. 6
1176123 1975
15
Haemoglobin Camperdown beta104(G6) arginine leads to serine. 6
1138922 1975
16
Hemoglobin Beograd (alpha2beta2 121 Glu leads to Val) interacting with beta-thalassemia. 6
809962 1975
17
Hemoglobin Beograd or alpha 2 beta 2 121 Glu-Val (GH4). 6
4761994 1973
18
Haemoglobin variant in a Bushman: haemoglobin D-beta-Bushman-alpha-beta-22-16-gly-arg. 6
6082467 1967
19
A NEW HAEMOGLOBIN, D IBADAN (BETA-87 THREONINE -- LYSINE), PRODUCING NO SICKLE-CELL HAEMOGLOBIN D DISEASE WITH HAEMOGLOBIN S. 6
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. 6
14289041 1965
21
Some aspects of the chemistry and function of human and animal hemoglobins. 6
5324987 1965
22
THE CHEMICAL INVESTIGATION OF HAEMOGLOBINS GBRISTOL AND GBRISTO C. 6
14166851 1964
23
Four hemoglobins in each of three brothers. Genetic and biochemical significance. 6
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. 6
14474345 1962
25
The polypeptide chains of haemoglobin-A2 and haemoglobin-G2. 6
13716549 1961
26
Abnormal human haemoglobins. V. Chemical investigation of haemoglobins A, G, C, X from one individual. 6
13685865 1961
27
The abnormal polypeptide chains in a number of haemoglobin variants. 6
13703277 1961
28
Four haemoglobins in one individual. A study of the genetic interaction of Hb-G and Hb-C. 6
13739559 1960
29
A variety of human hemoglobin with 4 distinct electrophoretic components. 6
13795009 1960
30
Stanleyville I and II: two new variants of adult haemoglobin. 6
13816361 1959
31
Predictors affecting anterolateral thigh flap in reconstruction of upper extremity. 61
31725633 2019
32
Is Hemoglobin D Trait Hematologically Silent: Comparison With Healthy Controls and β-thalassemia Carriers. 61
31688629 2019
33
Risk factors for coronary artery ectasia and the relationship between hyperlipidemia and coronary artery ectasia. 61
30741741 2019
34
Coinheritance of hemoglobin D-Punjab and β0-thalassemia 3.4 kb deletion in a Thai girl. 61
28970692 2017
35
[Molecular identification of Hemoglobin D Punjab in cases detected in two families]. 61
27819792 2016
36
[The characteristics of the new indices of hemogram under liver cirrhosis]. 61
30615334 2016
37
Clinical, hematological and genetic data of a cohort of children with hemoglobin SD. 61
27521862 2016
38
Interference of hemoglobin D Punjab on measurements of glycated hemoglobin. 61
26549100 2015
39
Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis. 61
25818823 2015
40
β-Globin gene cluster haplotypes of Hb D-Los Angeles in Mazandaran Province, Iran. 61
26119666 2015
41
Compound heterozygous hemoglobin d-punjab/hemoglobin d-iran: a novel hemoglobinopathy. 61
25332633 2014
42
The effect of hydroxyurea on compound heterozygotes for sickle cell-hemoglobin D-Punjab--a single centre experience in eastern India. 61
24616059 2014
43
Evaluation of the Sebia CAPILLARYS 2 flex piercing for the measurement of HbA(1c) on venous and capillary blood samples. 61
24838332 2014
44
The prevalence of anemia and hemoglobinopathies in the hematologic clinics of the kermanshah province, Western iran. 61
24800037 2014
45
Double heterozygous hemoglobin Q India/hemoglobin D Punjab hemoglobinopathy: Report of two rare cases. 61
24497718 2013
46
Usage of U7 small nuclear ribonucleic acid in gene therapy of hemoglobin D Punjab disorder: Rationale? 61
24339540 2013
47
Pulmonary thromboembolism in a child with sickle cell hemoglobin d disease in the setting of acute chest syndrome. 61
24159402 2013
48
Identification of hemoglobin variants in samples received for glycated hemoglobin testing. 61
23117032 2013
49
Effects of hemoglobin D and E on the measurement of HbA1c with the modified Menarini/ARKRAY ADAMS A1c HA-8180V analyser. 61
23010358 2012
50
Interference of hemoglobin D on measurements of hemoglobin A1c by the high-performance liquid chromatography HA-8160 in 27 patients. 61
23063052 2012
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Variations for Hemoglobin D Disease

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ClinVar genetic disease variations for Hemoglobin D Disease:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HBB NM_000518.4(HBB):c.365A>T (p.Glu122Val)SNV other 15110 rs33987957 11:5246907-5246907 11:5225677-5225677
2 HBB NM_000518.5(HBB):c.49G>C (p.Gly17Arg)SNV other 15148 rs63751285 11:5248203-5248203 11:5226973-5226973
3 HBB NM_000518.5(HBB):c.60C>A (p.Asn20Lys)SNV other 15153 rs63750840 11:5248192-5248192 11:5226962-5226962
4 HBB NM_000518.4(HBB):c.365A>C (p.Glu122Ala)SNV other 15534 rs33987957 11:5246907-5246907 11:5225677-5225677
5 HBB NM_000518.4(HBB):c.29C>A (p.Ser10Tyr)SNV other 15619 rs33918131 11:5248223-5248223 11:5226993-5226993
6 HBA2 NM_000517.6(HBA2):c.207C>R (p.Asn69Lys)SNV other 15638 rs111033601 16:223235-223235 16:173236-173236
7 HBB NM_000518.4(HBB):c.67G>C (p.Glu23Gln)SNV Conflicting interpretations of pathogenicity 15151 rs33959855 11:5248185-5248185 11:5226955-5226955
8 HBB NM_000518.4(HBB):c.364G>C (p.Glu122Gln)SNV Conflicting interpretations of pathogenicity 15152 rs33946267 11:5246908-5246908 11:5225678-5225678
9 HBB NM_000518.4(HBB):c.68A>T (p.Glu23Val)SNV Uncertain significance 15149 rs33936254 11:5248184-5248184 11:5226954-5226954
10 HBB NM_000518.4(HBB):c.263C>A (p.Thr88Lys)SNV Likely benign 15150 rs33993568 11:5247859-5247859 11:5226629-5226629
Sources

Expression for Hemoglobin D Disease

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

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

# Super pathways Score Top Affiliating Genes
1
Response to elevated platelet cytosolic Ca2+ 65
Show member pathways
 12.43 HBE1 HBD HBB GYPA ALB
2
Factors involved in megakaryocyte development and platelet production 65
11 HBE1 HBD HBB
3
Malaria 36
10.85 HBB GYPA
Sources

GO Terms for Hemoglobin D Disease

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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 9.46 HBE1 HBD HBB ALB
2 hemoglobin complex GO:0005833 9.26 HBQ1 HBE1 HBD HBB
3 haptoglobin-hemoglobin complex GO:0031838 8.92 HBQ1 HBE1 HBD HBB

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

# Name GO ID Score Top Affiliating Genes
1 hydrogen peroxide catabolic process GO:0042744 9.46 HBQ1 HBE1 HBD HBB
2 blood coagulation GO:0007596 9.43 HBE1 HBD HBB
3 cellular oxidant detoxification GO:0098869 9.35 HBQ1 HBE1 HBD HBB ALB
4 oxygen transport GO:0015671 8.92 HBQ1 HBE1 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 9.71 HBQ1 HBE1 HBD HBB
2 peroxidase activity GO:0004601 9.67 HBQ1 HBE1 HBD HBB
3 oxygen carrier activity GO:0005344 9.56 HBQ1 HBE1 HBD HBB
4 hemoglobin alpha binding GO:0031721 9.5 HBE1 HBD HBB
5 organic acid binding GO:0043177 9.46 HBQ1 HBE1 HBD HBB
6 haptoglobin binding GO:0031720 9.26 HBQ1 HBE1 HBD HBB
7 oxygen binding GO:0019825 9.02 HBQ1 HBE1 HBD HBB ALB
Sources

Sources for Hemoglobin D Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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