MCID: MTH064
MIFTS: 37

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 53 25 29
Hemoglobin M Disease 53 25 59 72
Congenital Methemoglobinemia 25 72
Blue Baby Syndrome 53 25
M Hemoglobinopathy 53 59
Hereditary Methemoglobinemia Due to Hemoglobin Mutation 53
Autosomal Dominant Methemoglobinemia 53
Hemoglobin M 6

Characteristics:

Orphanet epidemiological data:

59
hemoglobin m disease
Inheritance: Autosomal dominant;

Classifications:



External Ids:

ICD10 via Orphanet 34 D74.0
Orphanet 59 ORPHA330041
UMLS 72 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 hemoglobinopathy and heinz body anemias. An important gene associated with Methemoglobinemia, Beta-Globin Type is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Vesicle-mediated transport and Selenium Micronutrient Network. The drugs leucovorin and Dapsone have been mentioned in the context of this disorder. Affiliated tissues include lung and skin.

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 61)
# Related Disease Score Top Affiliating Genes
1 hemoglobinopathy 28.7 HBB HBA2 HBA1
2 heinz body anemias 28.6 HBB HBA2 HBA1
3 thalassemia 28.5 HBB HBA2 HBA1
4 hemolytic anemia 28.5 HBB HBA2 HBA1
5 congenital methemoglobinemia 12.5
6 methemoglobinemia due to deficiency of methemoglobin reductase 12.3
7 hereditary methemoglobinemia 11.9
8 methemoglobinemia, beta type 11.6
9 methemoglobinemia, alpha type 11.6
10 obsolete: recessive hereditary methemoglobinemia type 1 11.3
11 obsolete: recessive hereditary methemoglobinemia type 2 11.3
12 methemoglobinemia 10.9
13 cyanosis, transient neonatal 10.6
14 methemoglobin reductase deficiency 10.3
15 autosomal recessive disease 10.1
16 microcephaly 10.1
17 methemoglobinemia and ambiguous genitalia 10.0
18 acquired methemoglobinemia 10.0
19 hemoglobin zurich 10.0 HBB HBA2
20 polycythemia vera 9.9
21 tricuspid atresia 9.9
22 leukodystrophy 9.9
23 patent foramen ovale 9.9
24 mitral valve stenosis 9.9
25 cerebral palsy 9.9
26 spondylosis 9.9
27 movement disease 9.9
28 dystonia 9.9
29 polycythemia 9.9
30 critical congenital heart disease 9.9
31 encephalopathy 9.9
32 hypertonia 9.9
33 hypochromic microcytic anemia 9.9 HBB HBA2
34 enterocolitis 9.8
35 heart disease 9.8
36 perinatal necrotizing enterocolitis 9.8
37 obsolete: heinz body anemia 9.8
38 rubeosis iridis 9.8 HBB HBA2
39 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 9.8 HBA2 HBA1
40 sickle cell disease 9.8 HBB HBA2
41 splenomegaly 9.8
42 diabetes mellitus, insulin-dependent, 24 9.8 HBA2 HBA1
43 hydrops fetalis, nonimmune 9.8 HBA2 HBA1
44 hydrops fetalis 9.8 HBA2 HBA1
45 hypoglycemic coma 9.7 HBA2 HBA1
46 erythrocytosis, familial, 7 9.7 HBA2 HBA1
47 type 1 diabetes mellitus 7 9.7 HBA2 HBA1
48 type 1 diabetes mellitus 11 9.7 HBA2 HBA1
49 immature cataract 9.7 HBA2 HBA1
50 microcytic anemia 9.7 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

Drugs & Therapeutics for Methemoglobinemia, Beta-Globin Type

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved Phase 4 58-05-9 143 6006
2
Dapsone Approved, Investigational Phase 4 80-08-0 2955
3
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
4 Folic Acid Antagonists Phase 4
5 Anti-Infective Agents Phase 4
6 Vitamin B9 Phase 4
7 Folate Phase 4
8 Anti-Bacterial Agents Phase 4
9 Vitamin B Complex Phase 4
10 Antiparasitic Agents Phase 4
11 Antimalarials Phase 4
12 Antiprotozoal Agents Phase 4

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

Anatomical Context for Methemoglobinemia, Beta-Globin Type

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

41
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. 38 71
5856115 1965
2
A new variant of hemoglobin M disease: hemoglobin M-Chicago. 38 71
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. 71
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. 71
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. 71
7663000 1995
6
Hb-M "Hyde Park": a de novo mutation, identified by mass spectrometry and DNA analysis. 71
1398295 1992
7
Haemoglobin M-Hyde Park associated with polyagglutinable red blood cells in a South African family. 71
3377987 1988
8
Hemoglobin M Iwate is caused by a C----T transition in codon 87 of the human alpha 1-globin gene. 71
3026948 1987
9
Hb M Iwate [alpha (2)87His----Tyr beta 2]: de novo mutation in an Irish family. 71
3957697 1986
10
DNA restriction mapping identifies the chromosome carrying the mutant Hb Presbyterian beta-globin gene. 71
6309649 1983
11
Hb M Milwaukee: direct detection of the beta-globin gene mutation in three generations of an afflicted family. 71
6311728 1983
12
Occurrence of Hb M Iwate (alpha 2 87 His leads to Tyr beta 2) in an Italian carrier. 71
7216821 1981
13
Biosynthetic evidence for instability of HB M Saskatoon. 71
6248489 1980
14
Abnormal hemoglobins in Japan. 71
6998928 1980
15
Hb M Milwaukee in a German family. 71
604314 1977
16
Haemoglobin M Hyde Park occurring as a fresh mutation: diagnostic, structural, and genetic considerations. 71
933112 1976
17
[HbM Erlangen: alpha2beta263(e7) tyr. New mutation with haemolysis and NADH-methaemoglobin reductase deficiency (author's transl)]. 71
1163074 1975
18
Haemoglobin M Saskatoon and haemoglobin M Hyde Park in two Yugoslavian families. 71
4413625 1974
19
Structure of hemoglobin M Boston, a variant with a five-coordinated ferric heme. 71
4521212 1973
20
Haemoglobin Hiroshima and the mechanism of the alkaline Bohr effect. 71
5285571 1971
21
Properties of hemoglobin M, Milwaukee-I variant and its unique characteristic. 71
4311041 1969
22
Amino acid substitution in hemoglobin Makita. 71
5669922 1968
23
[HbM Hamburg, a beta chain anomaly: alpha-2-beta-2-63Tyr (equals HbM Saskatoon)]. 71
5996551 1966
24
Nature of haemoglobin M-Oldenburg. 71
5964191 1966
25
Mild homozygous beta-thalassemia. Further evidence for the heterogeneity of beta-thalassemia genes. 71
5900783 1966
26
Observations on the structure and behavior of hemoglobin MRadom. 71
5851873 1965
27
HEMOGLOBIN MARHUS. I. CLINICAL FAMILY STUDY. 71
14343445 1965
28
Functional abnormality of hemoglobin M-Osaka. 71
5840695 1965
29
THE STRUCTURAL STUDY ON A NEW HEMOGLOBIN VARIANT, HB MOSAKA. 71
14323593 1965
30
[Black blood disease]. 71
5896605 1964
31
Hemoglobin M-Osaka, a new variant of hemoglobin M. 71
5893086 1964
32
Hemoglobin M Kankakee, a new variant of hemoglobin M. 71
13906251 1962
33
Further studies on the fingerprint of Hb M-Iwate. 71
14474785 1962
34
Chemical studies of several varieties of Hb M. 71
13897827 1961
35
Spectroscopic characterization of Hb M-Iwate and Hb M-Kurume, the two variants of hemoglobin M found in Japan. 71
13911805 1961
36
Studies on an abnormal hemoglobin causing hereditary congenital cyanosis. 71
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. 71
13852555 1960
38
Clinical and laboratory features of two variants of methemoglobin M disease. 71
13665153 1959
39
Second spectroscopically abnormal methemoglobin associated with hereditary cyanosis. 71
13634986 1959
40
[Congenital cardiac defect with cyanosis caused by pathological blood pigment (hemoglobin M)]. 71
13509426 1958
41
Hemoglobin M. 71
13454817 1957
42
HEREDITARY CYANOSIS. 71
20324533 1950
43
[Not Available]. 71
18105244 1948
44
Diagnosis of Hemoglobin M Disease in a Toddler Presenting With Hypoxemia and Hemolysis. 38
31431070 2019
45
Congenital Methemoglobinemia Identified by Pulse Oximetry Screening. 38
30733239 2019
46
Hemoglobin M Disease as a Cause of Cyanosis in a Newborn. 38
26694193 2016
47
[Hemoglobin M disease]. 38
8270817 1993
48
De novo mutations producing unstable Hbs or Hbs M. II. Direct estimates of minimum nucleotide mutation rates in man. 38
7076259 1982
49
Benzocaine-induced methemoglobinemia. 38
868824 1977
50
Hemoglobin-M disease. 38
4746251 1973

Variations for Methemoglobinemia, Beta-Globin Type

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HBA1 NM_000558.5(HBA1): c.175C> T (p.His59Tyr) single nucleotide variant other rs35213748 16:227007-227007 16:177008-177008
2 HBA1 NM_000558.5(HBA1): c.262C> T (p.His88Tyr) single nucleotide variant other rs28928876 16:227094-227094 16:177095-177095
3 HBB NM_000518.4(HBB): c.203T> A (p.Val68Glu) single nucleotide variant Pathogenic rs33918343 11:5247919-5247919 11:5226689-5226689
4 HBB NM_000518.4(HBB): c.277C> T (p.His93Tyr) single nucleotide variant Pathogenic rs33924775 11:5247845-5247845 11:5226615-5226615
5 HBB NM_000518.5(HBB): c.190C> T (p.His64Tyr) single nucleotide variant Pathogenic rs33922873 11:5247932-5247932 11:5226702-5226702

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 extracellular exosome GO:0070062 9.58 HBB HBA2 HBA1
2 extracellular space GO:0005615 9.54 HBB HBA2 HBA1
3 blood microparticle GO:0072562 9.43 HBB HBA2 HBA1
4 endocytic vesicle lumen GO:0071682 9.33 HBB HBA2 HBA1
5 cytosolic small ribosomal subunit GO:0022627 9.32 HBA2 HBA1
6 hemoglobin complex GO:0005833 9.13 HBB HBA2 HBA1
7 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 9.61 HBB HBA2 HBA1
2 cellular oxidant detoxification GO:0098869 9.58 HBB HBA2 HBA1
3 protein heterooligomerization GO:0051291 9.54 HBB HBA2 HBA1
4 response to hydrogen peroxide GO:0042542 9.5 HBB HBA2 HBA1
5 positive regulation of cell death GO:0010942 9.43 HBB HBA2 HBA1
6 bicarbonate transport GO:0015701 9.33 HBB HBA2 HBA1
7 hydrogen peroxide catabolic process GO:0042744 9.13 HBB HBA2 HBA1
8 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 oxygen binding GO:0019825 9.5 HBB HBA2 HBA1
3 peroxidase activity GO:0004601 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 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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