MCID: HMG004
MIFTS: 36

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 58 15 71
Hb-D Disease 12
Hemoglobin D 6

Characteristics:

Orphanet epidemiological data:

58
hemoglobin d disease
Age of onset: Childhood;

Classifications:

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

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 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)

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:

(showing 44, show less)
# 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

Symptoms & Phenotypes for Hemoglobin D Disease

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

26 (showing 13, show less)
# 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

Drugs & Therapeutics for Hemoglobin D Disease

Interventional clinical trials:

(showing 2, show less)
# 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

Genetic Tests for Hemoglobin D Disease

Anatomical Context for Hemoglobin D Disease

MalaCards organs/tissues related to Hemoglobin D Disease:

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

Publications for Hemoglobin D Disease

Articles related to Hemoglobin D Disease:

(showing 175, show less)
# 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
51
Interaction of - α 3.7, ß Thalassemia Mutation IVS 1-5 and HbD Punjab in a Family: A Case Report. 61
26405395 2012
52
Predicting outcomes after traumatic brain injury: the development and validation of prognostic models based on admission characteristics. 61
22743383 2012
53
Risk assessment for cancer-associated thrombosis: what is the best approach? 61
22682117 2012
54
Co-inheritance of HbD (Iran)/Beta Thalassemia IVS1-5 (G > C) Trait in a Punjabi Lady with Diabetes. 61
23543793 2012
55
Molecular characterization of hemoglobin D Punjab traits and clinical-hematological profile of the patients. 61
22965366 2012
56
Risk assessment and prophylaxis for VTE in cancer patients. 61
21715725 2011
57
Indefinite noncooperative self-association of chicken deoxy hemoglobin D. 61
21337627 2011
58
Analysis of cosegregation of intragenic DNA sequence variations as markers of maternal cell contamination in prenatal diagnosis of β-thalassemia. 61
21316031 2011
59
Co-inheritance of hemoglobin D and β-thalassemia traits in three Iranian families: clinical relevance. 61
21194265 2011
60
First report of successful stem cell transplantation in a patient with sickle cell hemoglobin D disease. 61
20502357 2010
61
Hemoglobin D-Punjab syndromes in India: a single center experience on cation-exchange high performance liquid chromatography. 61
20557679 2010
62
Frequency of β-thalassemia trait and other hemoglobinopathies in northern and western India. 61
20838487 2010
63
Interference of hemoglobinA1c (HbA1c) detection using ion-exchange high performance liquid chromatography (HPLC) method by clinically silent hemoglobin variant in University Malaya Medical Centre (UMMC)--a case report. 61
19026622 2009
64
[Evaluation of Variant II analyzer equipped with the new 270-2101 NU kit (Bio-Rad) for HbA 1c assay]. 61
19189886 2009
65
Compound heterozygosity for hemoglobin S [beta6(A3)Glu6Val] and hemoglobin Korle-Bu [beta73(E17)Asp73Asn]. 61
19758965 2009
66
Intervention and prevention of hereditary hemolytic disorders in India: a case study of two ethnic communities of Sundargarh district in Orissa. 61
19263682 2008
67
Transfusion medicine illustrated. Hemoglobin D after a red-cell exchange for sickle-cell disease. 61
19054375 2008
68
Performance evaluation of ion exchange and affinity chromatography for HbA1c estimation in diabetic patients with HbD: a study of 129 samples. 61
18644359 2008
69
Low oxygen affinity in reptilian hemoglobin D: prediction of residue interactions in Geochelone carbonaria HbD by homology modeling. 61
18085430 2008
70
Cerebral blood volume changes in patients with eating disorders during word fluency: a preliminary study using multi-channel near infrared spectroscopy. 61
18227640 2007
71
Cerebral oxygen balance is impaired during repair of aortic coarctation in infants and children. 61
16153936 2005
72
Hemoglobin D/beta-thalassemia and beta-thalassemia major in a Saudi family. 61
15900384 2005
73
Structure-function studies of the Vitreoscilla hemoglobin D-region. 61
15044098 2004
74
Crystallization and preliminary X-ray diffraction study of hemoglobin D from the Aldabra giant tortoise, Geochelone gigantea. 61
14529497 2003
75
Hemoglobinopathies among five major ethnic groups in Karachi, Pakistan. 61
12757239 2002
76
Co-inheritance of hemoglobin D-punjab and hemoglobin S: case report. 61
12142798 2002
77
The primary structure of hemoglobin D from the Aldabra giant tortoise, Geochelone gigantea. 61
12012783 2002
78
[Hemoglobin anomalies at the university hospital center in Lome, Togo]. 61
12038179 2002
79
[Limits of chromatographic determination of glycated hemoglobin (Hb A1c) in diabetes mellitus in presence of abnormal hemoglobins]. 61
11530531 2001
80
Screening of Hemoglobinopathies in Kahramanmaraş, TURKEY. 61
27264060 2001
81
An infant with homozygous hemoglobin D-Iran. 61
11196276 2001
82
Hemoglobin D trait with alpha thalassemia in a Saudi family. 61
17322670 2000
83
More on the measurement of glycohemoglobin in patients with hemoglobin D. 61
10751593 2000
84
Interference of hemoglobin D in hemoglobin A(2) measurement by cation-exchange HPLC. 61
10430811 1999
85
Rat tissue collagen modified by advanced glycation: correlation with duration of diabetes and glycemic control. 61
10536930 1999
86
The structural and functional analysis of the hemoglobin D component from chicken. 61
10037733 1999
87
Hemoglobinopathy screening in pregnancy: comparison of two protocols. 61
10458529 1999
88
In vivo antagonism of a T cell response by an endogenously expressed ligand. 61
9826700 1998
89
Hemoglobin D [beta 121(GH4)Glu-->Gln] causing falsely low and high HbA1c values in HPLC. 61
9732995 1998
90
Association of pulmonary function testing abnormalities and severe veno-occlusive disease of the liver after marrow transplantation. 61
9645575 1998
91
Oxalated pyridoxalated hemoglobin polyoxyethylene conjugate normalizes the hyperdynamic circulation in septic sheep. 61
9201055 1997
92
[The association of beta zero-thalassemia and Hb D Punjab in a family of Indian origin. The second case reported in Spain]. 61
9139146 1997
93
Genetic epidemiology of the three predominant abnormal hemoglobins in India. 61
8773089 1996
94
X-ray structure determination of a dimeric hemoglobin from Caudina arenicola. 61
15299806 1995
95
Hemoglobin D Ibadan-beta zero thalassemia: detection by neonatal screening and confirmation by electrospray-ionization mass spectrometry. 61
8166888 1993
96
Interaction of chlorpromazine with hemoglobin. 61
2286389 1990
97
[Early stage of gan-zheng in children treated with sheng-zhang-Ling]. 61
2397542 1990
98
Facilitated transport of oxygen through hemoglobin solutions. 61
2096624 1990
99
Identification of Hb D-Punjab gene: application of DNA amplification in the study of abnormal hemoglobins. 61
2729278 1989
100
Hemoglobin constant spring defined by specific oligonucleotide hybridization and hemoglobin D Punjab (beta 121----Gln) in a Batak Indonesian family. 61
3177365 1988
101
Primary structure of the hemoglobins from Sphenodon (Sphenodon punctatus, Tuatara, Rynchocephalia). Evidence for the expression of alpha D-gene. 61
3214555 1988
102
Hematological malignancy in hemoglobin D disease. 61
3162650 1988
103
Hemoglobin D-beta (0) thalassemia. A case report and family study. 61
3239708 1988
104
[A case of hemoglobin D Punjab in Tunisia. Characterization and structural study]. 61
2891345 1987
105
Hemoglobin D-Los Angeles [beta 121(GH4)Glu----Gln] in the Province of Liège, Belgium. 61
3557993 1986
106
Identification of hemoglobin D Punjab by gene mapping. 61
3007396 1986
107
[Clinical significance of the heterozygote hemoglobin D carrier state]. 61
2933292 1985
108
[Disease caused by sickle cell anemia and hemoglobin D-Punjab. 3d case found in Venezuela]. 61
4012519 1985
109
Hemoglobin D "Los Angeles" in an Austrian family: biochemical identification, clinical aspects, and kindred study. 61
6592161 1984
110
[Initial description of hemoglobin D Punjab in an Austrian family]. 61
6583886 1983
111
[Identification of hemoglobin D Punjab (beta 121 glu replaced by gln) in an Austrian family. Sequence analysis of the abnormal tryptic peptide beta XTp13]. 61
6670276 1983
112
[Hemoglobin D Punjab in Dagestan]. 61
6884742 1983
113
[Double heterozygote hemoglobin D/B0 thalassemia. Report of 3 cases in a Portuguese family]. 61
6664837 1983
114
Hemoglobinopathies in Israel. 61
6629831 1983
115
Hemoglobins, XLV. The amino acid sequence of pheasant (Phasianus colchicus colchicus) hemoglobins. 61
7076123 1982
116
Glucose-6-phosphate dehydrogenase and hemoglobin variants in Kel Kummer Tuareg and related groups. Indirect evidence for alpha-thalassemia trait. 61
7152536 1982
117
Hemoglobin D-Punjab (beta 121 Glu leads to Gln) in a Spanish family. 61
7096110 1982
118
Binding of organic ions by proteins. 2. Effects of 1-benzyl-3-indazoleoxyacetate at low concentration on the oxygen affinity of human hemoglobin. 61
7254199 1981
119
Development of in vivo somatic mutation system using antibody against hemoglobin: preparation and use of an anti-hemoglobin antibody for identifying C57BL/6 red cells in artificial mixture of DBA/2 and C57BL/6 red cells. 61
7242544 1981
120
[Polymorphism of hemoglobins D in Ivory Coast: Hb Korle Bu (beta 73 (E17) Asp leads to Asn), Hb Avicenna (beta 47 (CD6) Asp leads to Ala) and Hb Cocody (beta 21 (B3) Asp leads to Asn) (author's transl)]. 61
6273786 1981
121
Occurrence of hemoglobin D Los Angeles in Brahmins of Andhra Pradesh, South India. 61
7319831 1981
122
[Hemoglobin D Punjab. Apropos of 2 families]. 61
158829 1979
123
Hemoglobin D Ibadan trait in combination with sigma beta thalassemia. 61
457424 1979
124
[Determination of a primary structure of abnormal D-like hemoglobin isolated from a blood donor]. 61
698305 1978
125
Hemoglobin S and some other hemoglobinopathies in Eti-Turks. 61
618818 1978
126
Sickle cell hemoglobin D disease: first reported case in Iran. 61
754514 1978
127
[Abnormal hemoglobins in Algeria]. 61
197606 1977
128
The interaction of betaO-thalassemia with hemoglobin D Punjab: a study of globin chain synthesis in an Indian family. 61
914644 1977
129
Studies on avian erythrocyte metabolism. VII. Effect of inositol pentaphosphate and other organic phosphates on oxygen affinity of the embryonic and adult-type hemoglobins of the turkey embryo. 61
21150 1977
130
Effect of hypoxia on erythroblasts from avian fetal liver: adenosine triphosphate levels and hemoglobin synthesis. 61
958752 1976
131
[Hemoglobin Stanleyville II and mucoviscidosis in an Alsatian family]. 61
132643 1975
132
Hemoglobin D Iran alpha A2 beta 22 2-Glu leads to Gln in association with thalassemia. 61
4725603 1973
133
Quinidine hemolytic anemia in the absence of thrombocytopenia in a patient with hemoglobin D. 61
4695590 1973
134
[Hemoglobin D-Los Angeles-Punjab in 2 Italian subjects]. 61
4787517 1973
135
Identification of hemoglobin Oak ridge with hemoglobin D Punjab (Los Angeles). 61
5050915 1972
136
The diagnosis of homozygous hemoglobin D disease. 61
5047609 1972
137
[A case of association of hemoglobin D-beta microcythemia]. 61
4206223 1972
138
[Hemoglobin D Punjab in a German patient]. 61
4665617 1972
139
Hemoglobin D disease: report of a case. 61
5556213 1971
140
Double heterozygosity for hemoglobin G (alpha-2 68Lys beta-A2) and hemoglobin D (alpha A2-beta-121Gln). 61
5549195 1971
141
[Allosteric effector of hemoglobin, D-2,3-diphosphoglycerate]. 61
4920708 1970
142
[On a case of hemoglobin D Punjab (alpha 2 beta 2 121-Glu-Gln)]. 61
5456442 1970
143
Homozygous hemoglobin D Punjab. 61
4991321 1970
144
[Hemoglobin D Punjab in a Mexican family with 2 clinical cases of hemoglobinopathy S-D]. 61
5408144 1969
145
Hemoglobin D Punjab in a Bulgarian Jewish family. 61
5369705 1969
146
[Hemoglobin D Los Angeles. Evidence of the structural anomaly obtained by various methods]. 61
5820685 1969
147
Hematological response to isologous and homologous bone marrow transplantation: mechanism of homologous failure. 61
17387924 1968
148
The structure of goat hemoglobins. 3. Hemoglobin D, a beta chain variant with one apparet amino acid substitution (21 Asp--His). 61
5697993 1968
149
Sheep hemoglobin D, an alpha-chain variant with one apparent amino acid substutution (alpha 15 Gly--Asp). 61
5680274 1968
150
Hemoglobin D Los Angeles in two Caucasian families: hemoglobin SD disease and hemoglobin D thalassemia. 61
5672850 1968
151
[A variant of abnormal hemoglobin D]. 61
5189416 1967
152
[Hemoglobin D]. 61
4874541 1966
153
Genetics of bovine hemoglobin D. 61
6012158 1966
154
Interaction between beta and delta thalassemia and hemoglobin D. 61
6012903 1966
155
SICKLE CELL HEMOGLOBIN D DISEASE IN A NEGRO COLOMBIAN PATIENT. 61
14295513 1965
156
BETA THALASSEMIA-HEMOGLOBIN D ALPHA. A FAMILY REPORT. 61
14262132 1965
157
HEMOGLOBIN D IN AN OKLAHOMA FAMILY. 61
14160125 1964
158
HEMOGLOBIN D-LOS ANGELES: ALPHA-2A BETA 2-121 GLUNH2. 61
14170996 1964
159
[STUDY OF 3 FAMILIES WITH HEMOGLOBIN D DISEASE]. 61
14171655 1963
160
Hemoglobinopathies in north India--1 hemoglobin D trait and hemoglobin D thelassemia. 61
13704887 1961
161
[Hemoglobin D]. 61
13706239 1960
162
[Hemoglobin D in a Frankfurt family]. 61
14421678 1960
163
[Hemoglobin D]. 61
13850508 1959
164
[First observation of hemoglobin D and microcythemia in 4 members of a family from Ferrara]. 61
14418680 1959
165
Electrophoresis of hemoglobin on agar gels; frequency of hemoglobin D in a Negro population. 61
13671273 1959
166
Hemoglobin D in Indonesia. 61
14416807 1959
167
[Hemoglobin D in an Italian family of Calabrian origin]. 61
13633534 1959
168
Hemoglobin patterns in American Indians. 61
13624709 1959
169
The hemoglobin D syndromes. 61
13510290 1958
170
[Hemoglobin D in a Congolese family]. 61
13509442 1957
171
On the prevalence of hemoglobin D in the American Negro. 61
13364000 1956
172
[On the individualization of hemoglobin D]. 61
13293849 1955
173
[Hemoglobin D; hereditary hemoglobin abnormality in an Algerian Moslem; observation of two families]. 61
14398619 1955
174
Clinical manifestations of inherited abnormal hemoglobins. I. The interaction of hemoglobin-S with hemoglobin-D. 61
14363320 1955
175
Abnormal hemoglobins; clinical disorders resulting from various combinations. 61
13230906 1955

Variations for Hemoglobin D Disease

ClinVar genetic disease variations for Hemoglobin D Disease:

6 (showing 10, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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

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:

(showing 3, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.43 HBE1 HBD HBB GYPA ALB
2 11 HBE1 HBD HBB
3 10.85 HBB GYPA

GO Terms for Hemoglobin D Disease

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

(showing 3, show less)
# 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:

(showing 4, show less)
# 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:

(showing 7, show less)
# 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 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 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
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