MCID: MTH064
MIFTS: 40

Methemoglobinemia, Beta-Globin Type

Categories: Blood diseases, Rare diseases
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Aliases & Classifications for Methemoglobinemia, Beta-Globin Type

MalaCards integrated aliases for Methemoglobinemia, Beta-Globin Type:

Name: Methemoglobinemia, Beta-Globin Type 19 42 28 5
Hemoglobin M Disease 19 42 58 71 75
Congenital Methemoglobinemia 42 71
Blue Baby Syndrome 19 42
M Hemoglobinopathy 19 58
Hereditary Methemoglobinemia Due to Hemoglobin Mutation 19
Autosomal Dominant Methemoglobinemia 19

Characteristics:


Inheritance:

Hemoglobin M Disease: Autosomal dominant 58

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

ICD10 via Orphanet 32 D74.0
Orphanet 58 ORPHA330041
UMLS 71 C0272087 C3665425

Summaries for Methemoglobinemia, Beta-Globin Type

MedlinePlus Genetics: 42 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 polycythemia and glucosephosphate dehydrogenase deficiency. An important gene associated with Methemoglobinemia, Beta-Globin Type is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Nuclear events mediated by NFE2L2 and Circadian Clock. The drugs Methylene blue and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include skin, whole blood and cerebellum, and related phenotype is Increased shRNA abundance (Z-score > 2).

GARD: 19 A rare hemoglobinopathy characterized by the presence of hemoglobin variants with structural abnormalities in the globin portion of the molecule which lead to auto-oxidation of heme iron, resulting in methemoglobinemia. Patients present with cyanosis for which no treatment is necessary. Mode of inheritance is autosomal dominant.

Orphanet: 58 A rare hemoglobinopathy characterized by the presence of hemoglobin variants with structural abnormalities in the globin portion of the molecule which lead to auto-oxidation of heme iron, resulting in methemoglobinemia. Patients present with cyanosis for which no treatment is necessary. Mode of inheritance is autosomal dominant.

Wikipedia: 75 Hemoglobin M disease is a rare form of hemoglobinopathy, characterized by the presence of hemoglobin M... more...

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 75)
# Related Disease Score Top Affiliating Genes
1 polycythemia 29.2 HBB HBA2 HBA1
2 glucosephosphate dehydrogenase deficiency 29.1 HBB HBA2 HBA1
3 hemoglobinopathy 28.2 LOC110006319 LOC107133510 LOC106099062 HBB HBA2 HBA1
4 heinz body anemias 28.1 LOC110006319 LOC107133510 LOC106099062 HBB HBA2 HBA1
5 beta-thalassemia 28.0 LOC110006319 LOC107133510 LOC106099062 HBB HBA2 HBA1
6 beta-thalassemia major 28.0 LOC110006319 LOC107133510 LOC106099062 HBB HBA2 HBA1
7 methemoglobinemia due to deficiency of methemoglobin reductase 11.7
8 congenital methemoglobinemia 11.5
9 methemoglobinemia 10.9
10 methemoglobin reductase deficiency 10.2
11 pyruvate dehydrogenase e3-binding protein deficiency 10.2
12 hypoascorbemia 10.1
13 methemoglobinemia and ambiguous genitalia 10.1
14 microcephaly 10.1
15 acquired methemoglobinemia 10.1
16 microcytic anemia 10.0 HBB HBA2
17 enterocolitis 9.9
18 heart disease 9.9
19 perinatal necrotizing enterocolitis 9.9
20 papillon-lefevre syndrome 9.9
21 polycythemia vera 9.9
22 tricuspid atresia 9.9
23 abdominal obesity-metabolic syndrome 1 9.9
24 pain agnosia 9.9
25 leukodystrophy 9.9
26 patent foramen ovale 9.9
27 mitral valve stenosis 9.9
28 cerebral palsy 9.9
29 spondylosis 9.9
30 bilirubin metabolic disorder 9.9
31 movement disease 9.9
32 dystonia 9.9
33 acute panmyelosis with myelofibrosis 9.9
34 critical congenital heart disease 9.9
35 encephalopathy 9.9
36 hypertonia 9.9
37 sickle cell disease and related diseases 9.8 LOC107133510 LOC106099062 HBB
38 hemoglobin e-beta-thalassemia syndrome 9.8 LOC107133510 LOC106099062 HBB
39 hemoglobin c disease 9.8 LOC107133510 LOC106099062 HBB
40 hemoglobin e disease 9.8 LOC107133510 LOC106099062 HBB
41 type 1 diabetes mellitus 24 9.8 HBA2 HBA1
42 immune hydrops fetalis 9.8 HBA2 HBA1
43 type 1 diabetes mellitus 7 9.7 HBA2 HBA1
44 immature cataract 9.7 HBA2 HBA1
45 hypoglycemic coma 9.7 HBA2 HBA1
46 hemoglobin d disease 9.7 LOC110006319 LOC107133510 HBB
47 erythrocytosis, familial, 8 9.7 HBA2 HBA1
48 alpha thalassemia-intellectual disability syndrome type 1 9.7 HBA2 HBA1
49 thrombotic thrombocytopenic purpura 9.6 HBB HBA1
50 hydrops fetalis, nonimmune 9.6 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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.7 HBA1 HBA2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.7 HBA1 HBA2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.7 HBA1 HBA2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.7 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
Methylene blue Approved, Investigational Phase 1 61-73-4 6099
2 Pharmaceutical Solutions Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A One-Period, Single-Dose, Safety, Tolerability, and Pharmacokinetic Study of Methylene Blue Injection USP Following a 1 mg/kg Intravenous Dose in Healthy Adult Volunteers Completed NCT02478281 Phase 1 Methylene Blue

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 28 HBB

Anatomical Context for Methemoglobinemia, Beta-Globin Type

Organs/tissues related to Methemoglobinemia, Beta-Globin Type:

MalaCards : Skin, Whole Blood, Cerebellum, Placenta, Kidney, Heart, Spleen

Publications for Methemoglobinemia, Beta-Globin Type

Articles related to Methemoglobinemia, Beta-Globin Type:

(show top 50) (show all 232)
# Title Authors PMID Year
1
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. 62 5
9494043 1998
2
Hb Tübingen [alpha 2 beta (2)106(G8)Leu-->Gln] in a Belgian Family. 5
8226097 1993
3
Hb-M "Hyde Park": a de novo mutation, identified by mass spectrometry and DNA analysis. 5
1398295 1992
4
Haemoglobin M-Hyde Park associated with polyagglutinable red blood cells in a South African family. 5
3377987 1988
5
DNA restriction mapping identifies the chromosome carrying the mutant Hb Presbyterian beta-globin gene. 5
6309649 1983
6
Hb M Milwaukee: direct detection of the beta-globin gene mutation in three generations of an afflicted family. 5
6311728 1983
7
Hb M Milwaukee in a German family. 5
604314 1977
8
Structural and functional characteristics of Hb Tübingen: beta 106 (G 8) Leu leads to Gln. 5
1278400 1976
9
Haemoglobin M Hyde Park occurring as a fresh mutation: diagnostic, structural, and genetic considerations. 5
933112 1976
10
Haemoglobin Hiroshima and the mechanism of the alkaline Bohr effect. 5
5285571 1971
11
Properties of hemoglobin M, Milwaukee-I variant and its unique characteristic. 5
4311041 1969
12
Amino acid substitution in hemoglobin Makita. 5
5669922 1968
13
Mild homozygous beta-thalassemia. Further evidence for the heterogeneity of beta-thalassemia genes. 5
5900783 1966
14
Chemical studies of several varieties of Hb M. 5
13897827 1961
15
Clinical and laboratory features of two variants of methemoglobin M disease. 5
13665153 1959
16
Case report of congenital methemoglobinemia: an uncommon cause of neonatal cyanosis. 62
36114590 2022
17
Intraoperative Management of a Child Undergoing Cardiac Surgery With Congenital Methemoglobinemia Detected in the Operating Room: A Case Report: Erratum. 62
35867846 2022
18
Reactive nitrogen compounds and their influence on human health: an overview. 62
34022126 2022
19
A Case of Congenital Methemoglobinemia: Rare but Real. 62
35592205 2022
20
CYB5R3 homozygous pathogenic variant as a rare cause of cyanosis in the newborn. 62
35104462 2022
21
Anesthetic experience: congenital methemoglobinemia due to hemoglobin M. 62
34703896 2021
22
Type I congenital methemoglobinemia in a Chinese family. 62
32556454 2021
23
A rare cause of cyanosis: Congenital methemoglobinemia. 62
34267908 2021
24
Congenital Methemoglobinemia and Unstable Hemoglobin Variant in a Child With Cyanosis. 62
34367744 2021
25
Rhizobium and Mycorrhizal Fungal Species Improved Soybean Yield Under Drought Stress Conditions. 62
33686507 2021
26
When to say no to inhaled nitric oxide in neonates? 62
33509680 2021
27
Intraoperative Management of a Child Undergoing Cardiac Surgery With Congenital Methemoglobinemia Detected in the Operating Room: A Case Report. 62
33684078 2021
28
Beyond a routine blood gas, an easily picked but missed diagnosis of chronic Encephalopathy. 62
33718579 2021
29
Congenital Methemoglobinemia-Induced Cyanosis in Assault Victim. 62
33903840 2021
30
Case Report of Remifentanil Labor Analgesia for a Pregnant Patient With Congenital Methemoglobinemia Type 1. 62
33449539 2021
31
[Congenital methemoglobinemia type Ⅱ in a child]. 62
32605351 2020
32
Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia. 62
31898843 2020
33
A bolt from the blue; A case report of an unusual asthma exacerbation. 62
31908916 2020
34
Optimised neural network model for river-nitrogen prediction utilizing a new training approach. 62
32986717 2020
35
The nitrate content of fresh and cooked vegetables and their health-related risks. 62
31917821 2020
36
Congenital methemoglobinemia: Rare presentation of cyanosis in newborns. 62
31754421 2019
37
Diagnosis of Hemoglobin M Disease in a Toddler Presenting With Hypoxemia and Hemolysis. 62
31431070 2019
38
Exon sequencing of the alpha-2-globin gene for the differential diagnosis of central cyanosis in newborns: a case report. 62
31269924 2019
39
Hydrothermal encapsulation of lanthanum oxide derived Aegle marmelos admixed chitosan bead system for nitrate and phosphate retention. 62
30794900 2019
40
Recessive congenital methemoglobinemia type II: Hypoplastic basal ganglia in two siblings with a novel mutation of the cytochrome b5 reductase gene. 62
30614390 2019
41
Congenital Methemoglobinemia Identified by Pulse Oximetry Screening. 62
30733239 2019
42
Genetic cause for congenital methemoglobinemia in an Australian Pomeranian dog. 62
30767280 2019
43
'Acute leukemia in congenital methehemoglobinemia - an enigma to explore'. 62
30788079 2019
44
Novel mutation (R192C) in CYB5R3 gene causing NADH-cytochrome b5 reductase deficiency in eight Indian patients associated with autosomal recessive congenital methemoglobinemia type-I. 62
29482478 2018
45
[Cyanosis in 14-year-old patient. Methemoglobinemia: case report]. 62
29756717 2018
46
Failure of Pulse Oximetry and Cooximetry as Monitors in a Patient With Hemoglobin MIwate: A Case Report. 62
29293483 2018
47
The Acute Treatment of Methemoglobinemia in Pregnancy. 62
29627348 2018
48
A new mutation of congenital methemoglobinemia exacerbated after methylene blue treatment. 62
29657736 2018
49
Congenital methemoglobinemia misdiagnosed as polycythemia vera: Case report and review of literature. 62
29721250 2018
50
Congenital methemoglobinemia type II in a 5-year-old boy. 62
29375859 2018

Variations for Methemoglobinemia, Beta-Globin Type

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

5 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC110006319, HBB, LOC107133510 NM_000518.5(HBB):c.316-106C>G SNV Pathogenic
15457 rs34690599 GRCh37: 11:5247062-5247062
GRCh38: 11:5225832-5225832
2 LOC106099062, LOC110006319, HBB, LOC107133510 NM_000518.5(HBB):c.315+1G>A SNV Pathogenic
15438 rs33945777 GRCh37: 11:5247806-5247806
GRCh38: 11:5226576-5226576
3 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.118C>T (p.Gln40Ter) SNV Pathogenic
15402 rs11549407 GRCh37: 11:5248004-5248004
GRCh38: 11:5226774-5226774
4 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.93-21G>A SNV Pathogenic
15454 rs35004220 GRCh37: 11:5248050-5248050
GRCh38: 11:5226820-5226820
5 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.92+6T>C SNV Pathogenic
15450 rs35724775 GRCh37: 11:5248154-5248154
GRCh38: 11:5226924-5226924
6 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.92+5G>C SNV Pathogenic
15447 rs33915217 GRCh37: 11:5248155-5248155
GRCh38: 11:5226925-5226925
7 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.92+1G>A SNV Pathogenic
15436 rs33971440 GRCh37: 11:5248159-5248159
GRCh38: 11:5226929-5226929
8 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.52A>T (p.Lys18Ter) SNV Pathogenic
15401 rs33986703 GRCh37: 11:5248200-5248200
GRCh38: 11:5226970-5226970
9 HBB, LOC106099062, LOC107133510 NM_000518.5(HBB):c.-79A>G SNV Pathogenic
15469 rs34598529 GRCh37: 11:5248330-5248330
GRCh38: 11:5227100-5227100
10 HBB, LOC106099062, LOC107133510 NM_000518.4(HBB):c.-137C>A SNV Pathogenic
36285 rs33941377 GRCh37: 11:5248388-5248388
GRCh38: 11:5227158-5227158
11 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.20A>T (p.Glu7Val) SNV Pathogenic
15333 rs334 GRCh37: 11:5248232-5248232
GRCh38: 11:5227002-5227002
12 LOC106099062, HBB, LOC107133510 NM_000518.4(HBB):c.19G>A (p.Glu7Lys) SNV Pathogenic
15126 rs33930165 GRCh37: 11:5248233-5248233
GRCh38: 11:5227003-5227003
13 LOC110006319, HBB, LOC107133510 NM_000518.4(HBB):c.364G>A (p.Glu122Lys) SNV Pathogenic
15292 rs33946267 GRCh37: 11:5246908-5246908
GRCh38: 11:5225678-5225678
14 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.79G>A (p.Glu27Lys) SNV Pathogenic
15161 rs33950507 GRCh37: 11:5248173-5248173
GRCh38: 11:5226943-5226943
15 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.17_18del (p.Pro6fs) DEL Pathogenic
15422 rs34889882 GRCh37: 11:5248234-5248235
GRCh38: 11:5227004-5227005
16 LOC106099062, HBB, LOC107133510 NM_000518.4(HBB):c.203T>A (p.Val68Glu) SNV Pathogenic
15254 rs33918343 GRCh37: 11:5247919-5247919
GRCh38: 11:5226689-5226689
17 LOC106099062, HBB, LOC107133510 NM_000518.4(HBB):c.277C>T (p.His93Tyr) SNV Pathogenic
15255 rs33924775 GRCh37: 11:5247845-5247845
GRCh38: 11:5226615-5226615
18 LOC110006319, HBB, LOC107133510 NM_000518.4(HBB):c.320T>A (p.Leu107Gln) SNV Pathogenic
15378 rs33941844 GRCh37: 11:5246952-5246952
GRCh38: 11:5225722-5225722
19 HBB, LOC106099062, LOC107133510 NM_000518.5(HBB):c.-138C>A SNV Likely Pathogenic
393701 rs33944208 GRCh37: 11:5248389-5248389
GRCh38: 11:5227159-5227159
20 LOC106099062, HBB, LOC107133510 NM_000518.4(HBB):c.208G>A (p.Gly70Ser) SNV Likely Pathogenic
15138 rs33947415 GRCh37: 11:5247914-5247914
GRCh38: 11:5226684-5226684

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 9.73 HBB HBA2 HBA1
2 endocytic vesicle lumen GO:0071682 9.63 HBB HBA2 HBA1
3 cytosolic small ribosomal subunit GO:0022627 9.62 HBA2 HBA1
4 hemoglobin complex GO:0005833 9.43 HBB HBA2 HBA1
5 haptoglobin-hemoglobin complex GO:0031838 9.1 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 cellular oxidant detoxification GO:0098869 9.88 HBB HBA2 HBA1
2 positive regulation of cell death GO:0010942 9.85 HBB HBA2 HBA1
3 response to hydrogen peroxide GO:0042542 9.8 HBB HBA2 HBA1
4 hydrogen peroxide catabolic process GO:0042744 9.73 HBA1 HBA2 HBB
5 oxygen transport GO:0015671 9.63 HBB HBA2 HBA1
6 carbon dioxide transport GO:0015670 9.43 HBB HBA2 HBA1
7 nitric oxide transport GO:0030185 9.1 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 9.85 HBB HBA2 HBA1
2 peroxidase activity GO:0004601 9.8 HBB HBA2 HBA1
3 oxygen binding GO:0019825 9.73 HBB HBA2 HBA1
4 oxygen carrier activity GO:0005344 9.63 HBB HBA2 HBA1
5 organic acid binding GO:0043177 9.43 HBB HBA2 HBA1
6 haptoglobin binding GO:0031720 9.1 HBB HBA2 HBA1

Sources for Methemoglobinemia, Beta-Globin Type

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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