MCID: HMG004
MIFTS: 27

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 60 15 74
Hb-D Disease 12
Hemoglobin D 6

Characteristics:

Orphanet epidemiological data:

60
hemoglobin d disease
Age of onset: Childhood;

Classifications:



External Ids:

Disease Ontology 12 DOID:5378
NCIt 51 C35344
SNOMED-CT 69 66729008
ICD10 34 D58.2
ICD10 via Orphanet 35 D58.2
UMLS via Orphanet 75 C0272080
Orphanet 60 ORPHA90039
UMLS 74 C0272080

Summaries for Hemoglobin D Disease

MalaCards based summary : Hemoglobin D Disease, also known as hb-d disease, is related to thalassemia and hemoglobinopathy. 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 bone.

Related Diseases for Hemoglobin D Disease

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

Search Clinical Trials , 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:

42
Bone

Publications for Hemoglobin D Disease

Articles related to Hemoglobin D Disease:

(show all 50)
# Title Authors Year
1
Pulmonary thromboembolism in a child with sickle cell hemoglobin d disease in the setting of acute chest syndrome. ( 24159402 )
2013
2
First report of successful stem cell transplantation in a patient with sickle cell hemoglobin D disease. ( 20502357 )
2010
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. ( 11570725 )
2001
4
Haemoglobin D-Ouled Rabah among the Mozabites: a relevant variant to trace the origin of Berber-speaking populations. ( 9450184 )
1997
5
Discrimination of Hb D Los Angeles (B121 Glu-Gln) and Hb Beograd (B121 Glu-Val) by dual restriction enzyme analysis. ( 7717379 )
1995
6
A new slow-moving hemoglobin variant Hb Tianshui or alpha 2 beta(2)39(C5)Gln----Arg, observed in a Chinese family living in Gansu. ( 2079437 )
1990
7
Hb D Los Angeles (D-Punjab) and Hb Presbyterian: analysis of the defect at the DNA level. ( 2307460 )
1990
8
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). ( 2752146 )
1989
9
Hematological malignancy in hemoglobin D disease. ( 3162650 )
1988
10
Hb D-Ouled Rabah [beta 19(B1)Asn----Lys]. A rare beta chain variant found in a Chinese family. ( 3384702 )
1988
11
Hb D Los Angeles [beta 121 Glu----Gln] in Japan. ( 2887538 )
1987
12
Hemoglobin D-Los Angeles [beta 121(GH4)Glu----Gln] in the Province of Liège, Belgium. ( 3557993 )
1986
13
The first observation of Hb D Punjab beta zero thalassaemia in an English family with 22 cases of unsuspected beta zero thalassaemia minor among its members. ( 4078867 )
1985
14
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. ( 3838975 )
1985
15
A silent hemoglobin variant detected by HPLC: hemoglobin City of Hope beta 69 (E13) Gly----Ser. ( 6434492 )
1984
16
The occurrence of the alpha G-Philadelphia-globin allele on a double-locus chromosome. ( 6198906 )
1984
17
Alpha-globin gene deletions associated with alpha A and alpha G Philadelphia in an Algerian family that includes two Hb G homozygotes. ( 6199285 )
1984
18
Haemoglobin D Punjab. Interaction with alpha thalassaemia and diagnosis by gene mapping. ( 6322284 )
1984
19
Sickle cell-hemoglobin D Iran: benign sickle cell syndrome. ( 7073867 )
1982
20
Hemoglobin G-Taipei in three additional Chinese families. ( 7338475 )
1981
21
Linkage of alpha G-Philadelphia to alpha-thalassemia in African-Americans . ( 6933536 )
1980
22
Proportion of hemoglobin G Philadelphia (alpha 268 Asn leads to Lys beta 2) in heterozygotes is determined by alpha-globin gene deletions. ( 6935689 )
1980
23
Sickle cell hemoglobin D disease: first reported case in Iran. ( 754514 )
1978
24
Hemoglobins Aida (alpha 64 Asp leads to Asn) and D-Los Angeles (beta 121 Glu leads to Gln) in an Asian-Indian family. ( 750553 )
1978
25
Haemoglobin Camperdown beta104(G6) arginine leads to serine. ( 1138922 )
1975
26
Hemoglobin Beograd (alpha2beta2 121 Glu leads to Val) interacting with beta-thalassemia. ( 809962 )
1975
27
Haemoglobin G Szuhu beta 80 asn leads to lys in an English family. ( 1176123 )
1975
28
Hemoglobin Beograd or alpha 2 beta 2 121 Glu-Val (GH4). ( 4761994 )
1973
29
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. ( 4719147 )
1973
30
The diagnosis of homozygous hemoglobin D disease. ( 5047609 )
1972
31
Identification of hemoglobin Oak ridge with hemoglobin D Punjab (Los Angeles). ( 5050915 )
1972
32
Hemoglobin D disease: report of a case. ( 5556213 )
1971
33
Homozygous hemoglobin D Punjab. ( 4991321 )
1970
34
Haemoglobin variant in a Bushman: haemoglobin D-beta-Bushman-alpha-beta-22-16-gly-arg. ( 6082467 )
1967
35
SICKLE CELL HEMOGLOBIN D DISEASE IN A NEGRO COLOMBIAN PATIENT. ( 14295513 )
1965
36
A NEW HAEMOGLOBIN, D IBADAN (BETA-87 THREONINE -- LYSINE), PRODUCING NO SICKLE-CELL HAEMOGLOBIN D DISEASE WITH HAEMOGLOBIN S. ( 14311973 )
1965
37
Some aspects of the chemistry and function of human and animal hemoglobins. ( 5324987 )
1965
38
THE AMINO ACID COMPOSITION OF HEMOGLOBIN. VI. SEPARATION OF THE TRYPTIC PEPTIDES OF HEMOGLOBIN KNOXVILLE NO. I ON DOWEX-I X-2 AND SEPHADEX. ( 14289041 )
1965
39
THE CHEMICAL INVESTIGATION OF HAEMOGLOBINS GBRISTOL AND GBRISTO C. ( 14166851 )
1964
40
HEMOGLOBIN D IN AN OKLAHOMA FAMILY. ( 14160125 )
1964
41
Four hemoglobins in each of three brothers. Genetic and biochemical significance. ( 13999302 )
1962
42
Alpha, beta and gamma hemoglobin polypeptide chains during the neonatal period with description of a fetal form of hemoglobin Da-St. Louis. ( 14474345 )
1962
43
The abnormal polypeptide chains in a number of haemoglobin variants. ( 13703277 )
1961
44
The polypeptide chains of haemoglobin-A2 and haemoglobin-G2. ( 13716549 )
1961
45
Abnormal human haemoglobins. V. Chemical investigation of haemoglobins A, G, C, X from one individual. ( 13685865 )
1961
46
Abnormal human haemoglobins. VII. The comparison of normal human haemoglobin and haemoglobin D-Chicago. ( 13872094 )
1961
47
A variety of human hemoglobin with 4 distinct electrophoretic components. ( 13795009 )
1960
48
Four haemoglobins in one individual. A study of the genetic interaction of Hb-G and Hb-C. ( 13739559 )
1960
49
Stanleyville I and II: two new variants of adult haemoglobin. ( 13816361 )
1959
50
Three varieties of human haemoglobin D. ( 13590135 )
1958

Variations for Hemoglobin D Disease

ClinVar genetic disease variations for Hemoglobin D Disease:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 HBB NM_000518.4(HBB): c.365A> T (p.Glu122Val) single nucleotide variant other rs33987957 GRCh37 Chromosome 11, 5246907: 5246907
2 HBB NM_000518.4(HBB): c.365A> T (p.Glu122Val) single nucleotide variant other rs33987957 GRCh38 Chromosome 11, 5225677: 5225677
3 HBB NM_000518.5(HBB): c.49G> C (p.Gly17Arg) single nucleotide variant other rs63751285 GRCh37 Chromosome 11, 5248203: 5248203
4 HBB NM_000518.5(HBB): c.49G> C (p.Gly17Arg) single nucleotide variant other rs63751285 GRCh38 Chromosome 11, 5226973: 5226973
5 HBB NM_000518.4(HBB): c.68A> T (p.Glu23Val) single nucleotide variant Uncertain significance rs33936254 GRCh37 Chromosome 11, 5248184: 5248184
6 HBB NM_000518.4(HBB): c.68A> T (p.Glu23Val) single nucleotide variant Uncertain significance rs33936254 GRCh38 Chromosome 11, 5226954: 5226954
7 HBB NM_000518.4(HBB): c.263C> A (p.Thr88Lys) single nucleotide variant Likely benign rs33993568 GRCh37 Chromosome 11, 5247859: 5247859
8 HBB NM_000518.4(HBB): c.263C> A (p.Thr88Lys) single nucleotide variant Likely benign rs33993568 GRCh38 Chromosome 11, 5226629: 5226629
9 HBB NM_000518.4(HBB): c.67G> C (p.Glu23Gln) single nucleotide variant Conflicting interpretations of pathogenicity, other rs33959855 GRCh37 Chromosome 11, 5248185: 5248185
10 HBB NM_000518.4(HBB): c.67G> C (p.Glu23Gln) single nucleotide variant Conflicting interpretations of pathogenicity, other rs33959855 GRCh38 Chromosome 11, 5226955: 5226955
11 HBB NM_000518.4(HBB): c.364G> C (p.Glu122Gln) single nucleotide variant Conflicting interpretations of pathogenicity, other rs33946267 GRCh37 Chromosome 11, 5246908: 5246908
12 HBB NM_000518.4(HBB): c.364G> C (p.Glu122Gln) single nucleotide variant Conflicting interpretations of pathogenicity, other rs33946267 GRCh38 Chromosome 11, 5225678: 5225678
13 HBB NM_000518.5(HBB): c.60C> A (p.Asn20Lys) single nucleotide variant other rs63750840 GRCh37 Chromosome 11, 5248192: 5248192
14 HBB NM_000518.5(HBB): c.60C> A (p.Asn20Lys) single nucleotide variant other rs63750840 GRCh38 Chromosome 11, 5226962: 5226962
15 HBB NM_000518.4(HBB): c.365A> C (p.Glu122Ala) single nucleotide variant other rs33987957 GRCh37 Chromosome 11, 5246907: 5246907
16 HBB NM_000518.4(HBB): c.365A> C (p.Glu122Ala) single nucleotide variant other rs33987957 GRCh38 Chromosome 11, 5225677: 5225677
17 HBB NM_000518.4(HBB): c.29C> A (p.Ser10Tyr) single nucleotide variant other rs33918131 GRCh37 Chromosome 11, 5248223: 5248223
18 HBB NM_000518.4(HBB): c.29C> A (p.Ser10Tyr) single nucleotide variant other rs33918131 GRCh38 Chromosome 11, 5226993: 5226993
19 HBA2 NP_000508.1: p.Asn69Lys single nucleotide variant other rs111033601 GRCh37 Chromosome 16, 223235: 223235
20 HBA2 NP_000508.1: p.Asn69Lys single nucleotide variant other rs111033601 GRCh38 Chromosome 16, 173236: 173236

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 HBB HBD

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 HBB HBD
2 hemoglobin complex GO:0005833 9.13 HBB HBD HBQ1
3 haptoglobin-hemoglobin complex GO:0031838 8.8 HBB HBD HBQ1

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 HBB HBD HBQ1
2 protein heterooligomerization GO:0051291 9.33 HBB HBD HBQ1
3 blood coagulation GO:0007596 9.32 HBB HBD
4 hydrogen peroxide catabolic process GO:0042744 9.13 HBB HBD HBQ1
5 oxygen transport GO:0015671 8.8 HBB HBD HBQ1

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 HBB HBD HBQ1
2 oxygen binding GO:0019825 9.5 HBB HBD HBQ1
3 peroxidase activity GO:0004601 9.43 HBB HBD HBQ1
4 hemoglobin alpha binding GO:0031721 9.37 HBB HBD
5 oxygen carrier activity GO:0005344 9.33 HBB HBD HBQ1
6 organic acid binding GO:0043177 9.13 HBB HBD HBQ1
7 haptoglobin binding GO:0031720 8.8 HBB HBD HBQ1

Sources for Hemoglobin D Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....