MCID: MTH064
MIFTS: 35

Methemoglobinemia, Beta-Globin Type

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Methemoglobinemia, Beta-Globin Type

MalaCards integrated aliases for Methemoglobinemia, Beta-Globin Type:

Name: Methemoglobinemia, Beta-Globin Type 52 25 29 6
Hemoglobin M Disease 52 25 58 71
Congenital Methemoglobinemia 25 71
Blue Baby Syndrome 52 25
M Hemoglobinopathy 52 58
Hereditary Methemoglobinemia Due to Hemoglobin Mutation 52
Autosomal Dominant Methemoglobinemia 52
Hemoglobin M 6

Characteristics:

Orphanet epidemiological data:

58
hemoglobin m disease
Inheritance: Autosomal dominant;

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

ICD10 via Orphanet 33 D74.0
Orphanet 58 ORPHA330041
UMLS 71 C0272087 C3665425

Summaries for Methemoglobinemia, Beta-Globin Type

Genetics Home Reference : 25 Methemoglobinemia, beta-globin type is a condition that affects the function of red blood cells. Specifically, it alters a molecule called hemoglobin within these cells. Hemoglobin within red blood cells attaches (binds) to oxygen molecules in the lungs, which it carries through the bloodstream, then releases in tissues throughout the body. Instead of normal hemoglobin, people with methemoglobinemia, beta-globin type have an abnormal form called methemoglobin, which is unable to efficiently deliver oxygen to the body's tissues. In methemoglobinemia, beta-globin type, the abnormal hemoglobin gives the blood a brown color. It also causes a bluish appearance of the skin, lips, and nails (cyanosis), which usually first appears around the age of 6 months. The signs and symptoms of methemoglobinemia, beta-globin type are generally limited to cyanosis, which does not cause any health problems. However, in rare cases, severe methemoglobinemia, beta-globin type can cause headaches, weakness, and fatigue.

MalaCards based summary : Methemoglobinemia, Beta-Globin Type, also known as hemoglobin m disease, is related to methemoglobinemia, beta type and methemoglobinemia. An important gene associated with Methemoglobinemia, Beta-Globin Type is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Binding and Uptake of Ligands by Scavenger Receptors and Malaria. The drug Dapsone has been mentioned in the context of this disorder. Affiliated tissues include lung and skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Methemoglobinemia, Beta-Globin Type

Diseases related to Methemoglobinemia, Beta-Globin Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 methemoglobinemia, beta type 32.0 LOC107133510 LOC106099062 HBB
2 methemoglobinemia 30.3 LOC110006319 LOC107133510 LOC106099062 HBB
3 polycythemia 29.1 HBB HBA2
4 heinz body anemias 28.9 HBB HBA2 HBA1
5 hemolytic anemia 28.7 HBB HBA2 HBA1
6 thalassemia 27.6 LOC110006319 LOC106099062 HBB HBA2 HBA1
7 hemoglobinopathy 27.2 LOC110006319 LOC107133510 LOC106099062 HBB HBA2 HBA1
8 congenital methemoglobinemia 12.6
9 methemoglobinemia due to deficiency of methemoglobin reductase 12.3
10 methemoglobinemia, alpha type 11.6
11 cyanosis, transient neonatal 10.6
12 methemoglobin reductase deficiency 10.3
13 autosomal recessive disease 10.1
14 microcephaly 10.1
15 methemoglobinemia and ambiguous genitalia 10.0
16 acquired methemoglobinemia 10.0
17 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 9.9 HBB HBA2
18 polycythemia vera 9.9
19 tricuspid atresia 9.9
20 leukodystrophy 9.9
21 patent foramen ovale 9.9
22 mitral valve stenosis 9.9
23 cerebral palsy 9.9
24 spondylosis 9.9
25 movement disease 9.9
26 dystonia 9.9
27 critical congenital heart disease 9.9
28 encephalopathy 9.9
29 hypertonia 9.9
30 histiocytosis-lymphadenopathy plus syndrome 9.9 HBB HBA2
31 enterocolitis 9.8
32 heart disease 9.8
33 perinatal necrotizing enterocolitis 9.8
34 sickle cell disease 9.8 HBB HBA2
35 splenomegaly 9.8
36 acute chest syndrome 9.8 HBB HBA2
37 hemoglobin e disease 9.7 LOC107133510 LOC106099062 HBB
38 iron metabolism disease 9.7 HBB HBA2
39 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 9.7 HBA2 HBA1
40 erythrocytosis, familial, 7 9.7 HBA2 HBA1
41 alpha thalassemia-intellectual disability syndrome type 1 9.7 HBA2 HBA1
42 hypoglycemic coma 9.6 HBA2 HBA1
43 diabetes mellitus, insulin-dependent, 24 9.6 HBA2 HBA1
44 beta-thalassemia 9.4 HBB HBA2 HBA1
45 glutathione peroxidase deficiency 9.4 HBB HBA2 HBA1
46 hydrops fetalis, nonimmune 9.4 HBB HBA2 HBA1
47 erythrocytosis, familial, 8 9.4 HBB HBA2 HBA1
48 hypochromic microcytic anemia 9.4 HBB HBA2 HBA1
49 microcytic anemia 9.4 HBB HBA2 HBA1
50 blood protein disease 9.4 HBB HBA2 HBA1

Graphical network of the top 20 diseases related to Methemoglobinemia, Beta-Globin Type:



Diseases related to Methemoglobinemia, Beta-Globin Type

Symptoms & Phenotypes for Methemoglobinemia, Beta-Globin Type

GenomeRNAi Phenotypes related to Methemoglobinemia, Beta-Globin Type according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.53 HBA1 HBA2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.53 HBA1 HBA2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.53 HBA1 HBA2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.53 HBA1 HBA2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.43 HBA1 HBA2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-205 9.43 HBA1 HBA2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.43 HBA1 HBA2

Drugs & Therapeutics for Methemoglobinemia, Beta-Globin Type

Drugs for Methemoglobinemia, Beta-Globin Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dapsone Approved, Investigational Phase 4 80-08-0 2955

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 ACZ ACN 01. A Phase 4, Double-Blind, Multicenter, Randomized, Vehicle-Controlled, Cross-Over Study to Further Evaluate the Risk of Hematological Adverse Events in G6PD-Deficient Subjects With Acne Vulgaris Treated With ACZONE™ (Dapsone) Gel, 5%. Completed NCT00243542 Phase 4 ACZONE Gel, 5%;Vehicle

Search NIH Clinical Center for Methemoglobinemia, Beta-Globin Type

Genetic Tests for Methemoglobinemia, Beta-Globin Type

Genetic tests related to Methemoglobinemia, Beta-Globin Type:

# Genetic test Affiliating Genes
1 Methemoglobinemia, Beta-Globin Type 29 HBB

Anatomical Context for Methemoglobinemia, Beta-Globin Type

MalaCards organs/tissues related to Methemoglobinemia, Beta-Globin Type:

40
Lung, Skin

Publications for Methemoglobinemia, Beta-Globin Type

Articles related to Methemoglobinemia, Beta-Globin Type:

(show top 50) (show all 53)
# Title Authors PMID Year
1
Hemoglobin M disease in Japan. 61 6
5856115 1965
2
A new variant of hemoglobin M disease: hemoglobin M-Chicago. 61 6
14452533 1962
3
Identification of the molecular genetic defect of patients with methemoglobin M-Kankakee (M-Iwate), alpha87 (F8) His --> Tyr: evidence for an electrostatic model of alphaM hemoglobin assembly. 6
10477710 1999
4
DNA sequence analysis proves Hb M-Milwaukee-2 is due to beta-globin gene codon 92 (CAC-->TAC), the presumed mutation of Hb M-Hyde Park and Hb M-Akita. 6
9494043 1998
5
C to T transition at the first nucleotide of codon 63 of the beta-globin gene corresponding to hemoglobin M-Saskatoon in an Indonesian boy. 6
7663000 1995
6
Hb-M "Hyde Park": a de novo mutation, identified by mass spectrometry and DNA analysis. 6
1398295 1992
7
Haemoglobin M-Hyde Park associated with polyagglutinable red blood cells in a South African family. 6
3377987 1988
8
Hemoglobin M Iwate is caused by a C----T transition in codon 87 of the human alpha 1-globin gene. 6
3026948 1987
9
Hb M Iwate [alpha (2)87His----Tyr beta 2]: de novo mutation in an Irish family. 6
3957697 1986
10
DNA restriction mapping identifies the chromosome carrying the mutant Hb Presbyterian beta-globin gene. 6
6309649 1983
11
Hb M Milwaukee: direct detection of the beta-globin gene mutation in three generations of an afflicted family. 6
6311728 1983
12
Occurrence of Hb M Iwate (alpha 2 87 His leads to Tyr beta 2) in an Italian carrier. 6
7216821 1981
13
Abnormal hemoglobins in Japan. 6
6998928 1980
14
Biosynthetic evidence for instability of HB M Saskatoon. 6
6248489 1980
15
Hb M Milwaukee in a German family. 6
604314 1977
16
Haemoglobin M Hyde Park occurring as a fresh mutation: diagnostic, structural, and genetic considerations. 6
933112 1976
17
[HbM Erlangen: alpha2beta263(e7) tyr. New mutation with haemolysis and NADH-methaemoglobin reductase deficiency (author's transl)]. 6
1163074 1975
18
Haemoglobin M Saskatoon and haemoglobin M Hyde Park in two Yugoslavian families. 6
4413625 1974
19
Structure of hemoglobin M Boston, a variant with a five-coordinated ferric heme. 6
4521212 1973
20
Haemoglobin Hiroshima and the mechanism of the alkaline Bohr effect. 6
5285571 1971
21
Properties of hemoglobin M, Milwaukee-I variant and its unique characteristic. 6
4311041 1969
22
Amino acid substitution in hemoglobin Makita. 6
5669922 1968
23
[HbM Hamburg, a beta chain anomaly: alpha-2-beta-2-63Tyr (equals HbM Saskatoon)]. 6
5996551 1966
24
Nature of haemoglobin M-Oldenburg. 6
5964191 1966
25
Mild homozygous beta-thalassemia. Further evidence for the heterogeneity of beta-thalassemia genes. 6
5900783 1966
26
Observations on the structure and behavior of hemoglobin MRadom. 6
5851873 1965
27
HEMOGLOBIN MARHUS. I. CLINICAL FAMILY STUDY. 6
14343445 1965
28
Functional abnormality of hemoglobin M-Osaka. 6
5840695 1965
29
THE STRUCTURAL STUDY ON A NEW HEMOGLOBIN VARIANT, HB MOSAKA. 6
14323593 1965
30
[Black blood disease]. 6
5896605 1964
31
Hemoglobin M-Osaka, a new variant of hemoglobin M. 6
5893086 1964
32
Hemoglobin M Kankakee, a new variant of hemoglobin M. 6
13906251 1962
33
Further studies on the fingerprint of Hb M-Iwate. 6
14474785 1962
34
Chemical studies of several varieties of Hb M. 6
13897827 1961
35
Spectroscopic characterization of Hb M-Iwate and Hb M-Kurume, the two variants of hemoglobin M found in Japan. 6
13911805 1961
36
Studies on an abnormal hemoglobin causing hereditary congenital cyanosis. 6
14399582 1960
37
Studies on the heterogeneity of hemoglobin. I. The heterogeneity of different human hemoglobin types in carboxymethylcellulose and in amberlite IRC-50 chromatography qualitative aspects. 6
13852555 1960
38
Clinical and laboratory features of two variants of methemoglobin M disease. 6
13665153 1959
39
Second spectroscopically abnormal methemoglobin associated with hereditary cyanosis. 6
13634986 1959
40
[Congenital cardiac defect with cyanosis caused by pathological blood pigment (hemoglobin M)]. 6
13509426 1958
41
Hemoglobin M. 6
13454817 1957
42
HEREDITARY CYANOSIS. 6
20324533 1950
43
[Not Available]. 6
18105244 1948
44
Diagnosis of Hemoglobin M Disease in a Toddler Presenting With Hypoxemia and Hemolysis. 61
31431070 2019
45
Congenital Methemoglobinemia Identified by Pulse Oximetry Screening. 61
30733239 2019
46
Hemoglobin M Disease as a Cause of Cyanosis in a Newborn. 61
26694193 2016
47
[Hemoglobin M disease]. 61
8270817 1993
48
De novo mutations producing unstable Hbs or Hbs M. II. Direct estimates of minimum nucleotide mutation rates in man. 61
7076259 1982
49
Benzocaine-induced methemoglobinemia. 61
868824 1977
50
Hemoglobin-M disease. 61
4746251 1973

Variations for Methemoglobinemia, Beta-Globin Type

ClinVar genetic disease variations for Methemoglobinemia, Beta-Globin Type:

6 (show all 17) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HBA1 NM_000558.5(HBA1):c.175C>T (p.His59Tyr)SNV other 15778 rs35213748 16:227007-227007 16:177008-177008
2 HBA1 NM_000558.5(HBA1):c.262C>T (p.His88Tyr)SNV other 15779 rs28928876 16:227094-227094 16:177095-177095
3 HBB NM_000518.5(HBB):c.93-21G>ASNV Pathogenic 15454 rs35004220 11:5248050-5248050 11:5226820-5226820
4 HBB NM_000518.5(HBB):c.316-106C>GSNV Pathogenic 15457 rs34690599 11:5247062-5247062 11:5225832-5225832
5 HBB NM_000518.5(HBB):c.-79A>GSNV Pathogenic 15469 rs34598529 11:5248330-5248330 11:5227100-5227100
6 HBB NM_000518.4(HBB):c.203T>A (p.Val68Glu)SNV Pathogenic 15254 rs33918343 11:5247919-5247919 11:5226689-5226689
7 HBB NM_000518.4(HBB):c.277C>T (p.His93Tyr)SNV Pathogenic 15255 rs33924775 11:5247845-5247845 11:5226615-5226615
8 HBB NM_000518.5(HBB):c.190C>T (p.His64Tyr)SNV Pathogenic 15256 rs33922873 11:5247932-5247932 11:5226702-5226702
9 HBB NM_000518.4(HBB):c.320T>A (p.Leu107Gln)SNV Pathogenic 15378 rs33941844 11:5246952-5246952 11:5225722-5225722
10 HBB NM_000518.5(HBB):c.52A>T (p.Lys18Ter)SNV Pathogenic 15401 rs33986703 11:5248200-5248200 11:5226970-5226970
11 HBB NM_000518.5(HBB):c.118C>T (p.Gln40Ter)SNV Pathogenic 15402 rs11549407 11:5248004-5248004 11:5226774-5226774
12 HBB NM_000518.5(HBB):c.92+1G>ASNV Pathogenic 15436 rs33971440 11:5248159-5248159 11:5226929-5226929
13 HBB NM_000518.5(HBB):c.315+1G>ASNV Pathogenic 15438 rs33945777 11:5247806-5247806 11:5226576-5226576
14 HBB NM_000518.5(HBB):c.92+5G>CSNV Pathogenic 15447 rs33915217 11:5248155-5248155 11:5226925-5226925
15 HBB NM_000518.5(HBB):c.-137C>ASNV Pathogenic/Likely pathogenic 36285 rs33941377 11:5248388-5248388 11:5227158-5227158
16 HBB NM_000518.5(HBB):c.-138C>ASNV Pathogenic/Likely pathogenic 393701 rs33944208 11:5248389-5248389 11:5227159-5227159
17 HBB NM_000518.5(HBB):c.92+6T>CSNV Conflicting interpretations of pathogenicity 15450 rs35724775 11:5248154-5248154 11:5226924-5226924

Expression for Methemoglobinemia, Beta-Globin Type

Search GEO for disease gene expression data for Methemoglobinemia, Beta-Globin Type.

Pathways for Methemoglobinemia, Beta-Globin Type

GO Terms for Methemoglobinemia, Beta-Globin Type

Cellular components related to Methemoglobinemia, Beta-Globin Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.43 HBB HBA2 HBA1
2 endocytic vesicle lumen GO:0071682 9.33 HBB HBA2 HBA1
3 cytosolic small ribosomal subunit GO:0022627 9.32 HBA2 HBA1
4 hemoglobin complex GO:0005833 9.13 HBB HBA2 HBA1
5 haptoglobin-hemoglobin complex GO:0031838 8.8 HBB HBA2 HBA1

Biological processes related to Methemoglobinemia, Beta-Globin Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.58 HBB HBA2 HBA1
2 cellular oxidant detoxification GO:0098869 9.54 HBB HBA2 HBA1
3 response to hydrogen peroxide GO:0042542 9.5 HBB HBA2 HBA1
4 positive regulation of cell death GO:0010942 9.43 HBB HBA2 HBA1
5 bicarbonate transport GO:0015701 9.33 HBB HBA2 HBA1
6 hydrogen peroxide catabolic process GO:0042744 9.13 HBB HBA2 HBA1
7 oxygen transport GO:0015671 8.8 HBB HBA2 HBA1

Molecular functions related to Methemoglobinemia, Beta-Globin Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.54 HBB HBA2 HBA1
2 peroxidase activity GO:0004601 9.5 HBB HBA2 HBA1
3 oxygen binding GO:0019825 9.43 HBB HBA2 HBA1
4 iron ion binding GO:0005506 9.4 HBA2 HBA1
5 oxygen carrier activity GO:0005344 9.33 HBB HBA2 HBA1
6 organic acid binding GO:0043177 9.13 HBB HBA2 HBA1
7 haptoglobin binding GO:0031720 8.8 HBB HBA2 HBA1

Sources for Methemoglobinemia, Beta-Globin Type

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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