WordNet

the 3rd letter of the Roman alphabet (同)c
(music) the keynote of the scale of C major
a general-purpose programing language closely associated with the UNIX operating system
a hemoprotein composed of globin and heme that gives red blood cells their characteristic color; function primarily to transport oxygen from the lungs to the body tissues; "fish have simpler hemoglobin than mammals" (同)haemoglobin, Hb

PrepTutorEJDIC

carbonの化学記号
ヘモグロビン,血色素
cesiumの化学記号
cadmiumの化学記号

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/08/08 13:02:45」(JST)

wiki en

Hemoglobin C (abbreviated as Hb C or HbC) is an abnormal hemoglobin in which substitution of a glutamic acid residue with a lysine residue at the 6th position of the β-globin chain has occurred (E6K substitution).^[1]

Clinical significance

This mutated form reduces the normal plasticity of host erythrocytes causing a hemoglobinopathy. In those who are heterozygous for the mutation, about 28–44% of total hemoglobin (Hb) is HbC, and no anemia develops.

In homozygotes, nearly all Hb is in the HbC form, resulting in mild hemolytic anemia

Presentation

Target cells, microspherocytes and HbC crystals are found in a blood smear from a homozygous patient.

Combinations with other conditions

Individuals with sickle cell–hemoglobin C (HbSC), have the gene for HbS inherited from one parent and the gene for HbC is inherited from the other parent: they are "heterozygous". Since HbC does not polymerize as readily as HbS, there is less sickling (fewer sickle cells). The peripheral smear demonstrates mostly target cells and only a few sickle cells. There are fewer acute vaso-occlusive events. However, persons with hemoglobin SC disease (HbSC) have more significant retinopathy, ischemic necrosis of bone, and priapism than those with pure SS disease.^[2] People with hemoglobin C trait have red blood cells that have normal hemoglobin A and an abnormal hemoglobin. The abnormal hemoglobin is called hemoglobin C. People with hemoglobin C trait have slightly more hemoglobin A than hemoglobin C. People with Hemoglobin C trait do not have health problems related to having the trait. People with hemoglobin C do not have Hemoglobin C disease or sickle cell disease. They cannot develop these diseases later in life. They can pass hemoglobin C trait to their offspring.^[3] Individuals who carry the hemoglobin C trait can have a child with Hemoglobin C disease or Hemoglobin SC disease. Hemoglobin C disease is not a form of sickle cell disease.

Symptoms

Most people do not have symptoms. It can cause a mild to moderate enlargement of the spleen, splenomegaly, as well as hemolytic anemia^[4] (which is the form of anemia due to abnormal breakdown of red blood cells prematurely). Too much hemoglobin C can reduce the number and size of red blood cells in your body, causing mild anemia.^[3] Occasionally, jaundice may occur. Some persons with this disease may develop gallstones that require treatment.^[5] Continued hemolysis may produce pigmented gallstones, an unusual type of gallstone composed of the dark-colored contents of red blood cells.^[6]

Epidemiology

Hemoglobin C gene is found in 2-3% of US Blacks while 8% of US Blacks have hemoglobin S (Sickle) gene. Thus Hemoglobin SC disease is significantly more common than Hemoglobin CC disease. Hemoglobin C is found predominantly in Yorubas.^[7] It is also found in areas of West Africa, such as Ghana, where Yorubas once lived (MAN Volume 56 March 1956 pages 34–36).^[8] About 1 out of every 40 African-Americans has hemoglobin C trait.^[3] The trait also affects people whose ancestors came from Italy, Greece, Africa, Latin America, and the Caribbean region.^[3] However, it is possible for a person of any race or nationality to have hemoglobin C trait. In terms of geographic distribution, the hemoglobin C allele is found at the highest frequencies in West Africa, where it has been associated with protection against malaria.^[4] Hemoglobin C disease is present at birth, though some cases may not be diagnosed until adulthood. Both sexes, male and female, are affected equally.^[6]

Heredity of Hemoglobin C Disease

Hemoglobin C disease is an autosomal recessive disorder that results from the biparental inheritance of the allele that encodes for hemoglobin C.^[6] If both parents are carriers of hemoglobin C, there is a chance of having a child with hemoglobin C disease. These are the possible outcomes with each pregnancy. 25 percent (1 in 4) chance of having a child with hemoglobin C disease 50 percent (1 in 2) chance of having a child who is a carrier of hemoglobin C 25 percent (1 in 4) chance of having a child without disease and is not a carrier.^[3]

Clinical tests

Physical Examination may show an enlarged spleen. Tests that may be done include: Complete Blood Count (CBC), Hemoglobin electrophoresis, Peripheral blood smear, and Blood hemoglobin.^[5]

Treatment

Usually no treatment is needed. Folic acid supplementation may help produce normal red blood cells and improve the symptoms of anemia ^[9]

Prognosis

Overall, hemoglobin C disease is one of the more benign hemoglobinopathies.^[6] Mild-to-moderate reduction in RBC lifespan may accompany from mild hemolytic anemia. Individuals with hemoglobin C disease have sporadic episodes of musculoskeletal (joint) pain.^[6] People with hemoglobin C disease can expect to lead a normal life.^[9]

Prevention

Genetic counseling may be appropriate for high-risk couples who wish to have a baby.^[9]

References

^ [1]^{[dead link]}
^ Nagel, Ronald L.; Fabry, Mary E.; Steinberg, Martin H. (2003). "The paradox of hemoglobin SC disease". Blood Reviews 17 (3): 167–78. doi:10.1016/S0268-960X(03)00003-1. PMID 12818227.
^ ^a ^b ^c ^d ^e "Hemoglobin C Trait". Stjude.org. Retrieved 2015-03-03.
^ ^a ^b Fairhurst, Rick M.; Casella, James F. (2004). "Homozygous Hemoglobin C Disease". New England Journal of Medicine 350 (26): e24. doi:10.1056/NEJMicm030486. PMID 15215497.
^ ^a ^b "Updating PubMed Health - National Library of Medicine - PubMed Health". Ncbi.nlm.nih.gov. 2014-11-12. Retrieved 2015-03-03.
^ ^a ^b ^c ^d ^e Hemoglobin C Disease at eMedicine
^ Akinyanju, Olufemi O. (1989). "A Profile of Sickle Cell Disease in Nigeria". Annals of the New York Academy of Sciences 565: 126–36. doi:10.1111/j.1749-6632.1989.tb24159.x. PMID 2672962.
^ Fairhurst, R. M.; Fujioka, H.; Hayton, K.; Collins, K. F.; Wellems, T. E. (2003). "Aberrant development of Plasmodium falciparum in hemoglobin CC red cells: implications for the malaria protective effect of the homozygous state". Blood 101 (8): 3309–15. doi:10.1182/blood-2002-10-3105. PMID 12480691.
^ ^a ^b ^c MedlinePlus Encyclopedia Hemoglobin C disease

External links

Hemoglobin C at the US National Library of Medicine Medical Subject Headings (MeSH)
Hemoglobin C Disease at the US National Library of Medicine Medical Subject Headings (MeSH)

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. ヘモグロビン変異の概要 introduction to hemoglobin mutations
2. 異常ヘモグロビン症におけるマラリアに対する防御 protection against malaria in the hemoglobinopathies
3. Stomatocytosis and xerocytosis
4. 異常ヘモグロビン症の検査室診断 laboratory diagnosis of the hemoglobinopathies
5. 異常ヘモグロビン症の出生前スクリーニングおよび検査 prenatal screening and testing for hemoglobinopathy

English Journal

Hemoglobin C trait provides protection from clinical falciparum malaria in Malian children.

Travassos MA1, Coulibaly D2, Laurens MB1, Dembélé A2, Tolo Y2, Koné AK2, Traoré K2, Niangaly A2, Guindo A3, Wu Y4, Berry AA1, Jacob CG1, Takala-Harrison S1, Adams M1, Shrestha B1, Mu AZ1, Kouriba B2, Lyke KE4, Diallo DA3, Doumbo OK2, Plowe CV1, Thera MA2.
The Journal of infectious diseases.J Infect Dis.2015 May 27. pii: jiv308. [Epub ahead of print]
BACKGROUND: Hemoglobin C trait, like Hemoglobin S trait, protects against severe malaria in children, but it is unclear whether Hemoglobin C trait also protects against uncomplicated malaria. We hypothesized that Malian children with Hemoglobin C trait would have a lower risk of clinical malaria
PMID 26019283

Hemoglobin C in a patient with sickle cell anemia: transfusion-acquired SC disease.

Estey MP1, Capote KR2, Barakauskas VE2, Clarke G3, Higgins T4.
Clinical biochemistry.Clin Biochem.2015 Apr;48(6):463-4. doi: 10.1016/j.clinbiochem.2015.01.013. Epub 2015 Feb 4.
PMID 25661304

Novel Insights Into the Protective Role of Hemoglobin S and C Against Plasmodium falciparum Parasitemia.

Mangano VD1, Kabore Y2, Bougouma EC2, Verra F3, Sepulveda N4, Bisseye C5, Santolamazza F3, Avellino P3, Tiono AB2, Diarra A2, Nebie I2, Rockett KA6, Sirima SB2, Modiano D1; MalariaGEN Consortium.
The Journal of infectious diseases.J Infect Dis.2015 Feb 23. pii: jiv098. [Epub ahead of print]
Although hemoglobin S (HbS) and hemoglobin C (HbC) are well known to protect against severe Plasmodium falciparum malaria, conclusive evidence on their role against infection has not yet been obtained. Here we show, in 2 populations from Burkina Faso (2007-2008), that HbS is associated with a 70% re
PMID 25712976

Japanese Journal

International clinical harmonization of glycated hemoglobin in Japan : From Japan Diabetes Society to National Glycohemoglobin Standardization Program values

KASHIWAGI Atsunori,KASUGA Masato,ARAKI Eiichi,OKA Yoshitomo,HANAFUSA Toshiaki,ITO Hiroshi,TOMINAGA Makoto,OIKAWA Shinichi,NODA Mitsuhiko,KAWAMURA Takahiko,SANKE Tokio,NAMBA Mitsuyoshi,HASHIRAMOTO Mitsuru,SASAHARA Takayuki,NISHIO Yoshihiko,KUWA Katsuhiko,UEKI Kohjiro,TAKEI Izumi,UMEMOTO Masao,MURAKAMI Masami,YAMAKADO Minoru,YATOMI Yutaka,OHASHI Hatsumi
Diabetology international 3(1), 8-10, 2013-03-01
NAID 10030925706

HbA?cの急速な低下で悪化した糖尿病網膜症(3)糖尿病薬の調整に眼科医が関与し,網膜症が改善した1例

西川憲清,真野富也,吉田稔他
眼科臨床紀要 6(1), 17-22, 2013-00-00
NAID 40019559034

Revised System to Evaluate Measurement of Blood Chemistry Data From the Japanese National Health and Nutrition Survey and Prefectural Health and Nutrition Surveys

Nakamura Masakazu,Kiyama Masahiko,Kitamura Akihiko,Ishikawa Yoshinori,Sato Shinichi,Noda Hiroyuki,Yoshiike Nobuo
Journal of Epidemiology, 2013
… (g/dL), 7.6% for albumin (g/dL), 10.8% for creatinine (mg/dL), 6.5% for glucose (mg/dL), 9.7% for γ-glutamyl transpeptidase (U/L), 7.7% for uric acid (mg/dL), 8.7% for urea nitrogen (mg/dL), 9.2% for aspartate aminotransferase (U/L), 9.5% for alanine aminotransferase (U/L), and 6.5% for hemoglobin A1c (%).<BR>Conclusions: This monitoring system was established to assist health professionals in evaluating the continuity and comparability of NHNS and PHNS blood chemistry data among survey years and areas and to prevent biased or incorrect …
NAID 130001913530

Related Pictures

★リンクテーブル★

リンク元	「ヘモグロビンC」
拡張検索	「sickle cell hemoglobin C disease」
関連記事	「C」「Cs」「Cd」「c」「hemoglobin」

「ヘモグロビンC」

Hemoglobin C
Classification and external resources
Specialty	hematology
ICD-10	D58.2
ICD-9-CM	282.7
DiseasesDB	29693
MedlinePlus	000572
eMedicine	article/200853
MeSH	D006445