hemoglobin barts hemoglobin barts hemoglobin barts, abbreviated hb barts, is an abnormal type of hemoglobin that consists of four gamma globins. it is moderately insoluble, and therefore accumulates in the red blood cells. hb barts has an extremely high affinity for oxygen, so it cannot release oxygen to the tissue. therefore, this makes it an inefficient oxygen carrier. as an embryo develops, it begins to produce alpha-globins at weeks 5–6 of development. when both of the hba1 and hba2 genes which code for alpha globins becomes dysfunctional, the affected fetuses will have difficulty in synthesizing a functional hemoglobin. as a result, gamma chains will accumulate and form four gamma globins. these gamma globins bind to form hemoglobin barts. it is produced in the disease alpha-thalassemia and in the most severe of cases, it is the only form of hemoglobin in circulation. in this situation, a fetus will develop hydrops fetalis and normally die before or shortly after birth, unless intrauterine blood transfusion is performed. since hemoglobin barts is elevated in alpha thalassemia, it can be measured, providing a useful screening test for this disease in some populations. the ability to measure hemoglobin barts makes it useful in newborn screening tests. if hemoglobin barts is detected on a newborn screen, the patient is usually referred for further evaluation since detection of hemoglobin barts can indicate either one alpha globin gene deletion, making the baby a silent alpha thalassemia carrier, two alpha globin gene deletions (alpha thalassemia), or hemoglobin h disease (three alpha globin gene deletions). deletion of four alpha globin genes was previously felt to be incompatible with life, but there are currently 69 patients who have survived past infancy. genotypes alpha-globin gene deletions clinical component αα/αα 0 normal -α/αα 1 silent carrier --/αα or -α/-α 2 alpha-thalassemia trait --/-α 3 hb h disease --/-- 4 fetal hydrops table 1: α represents the presence of α-globin gene and- represents the deletion of α-globin gene. the chance of a fetus developing hemoglobin bart's hydrops fetalis is dependent upon if one or both parent carries the alpha-thalassemia trait. due to this disease being incompatible with life, diagnosis for it is done prenatally. early detection of hemoglobin (hb) bart's disease before the development of hydrops fetalis is crucial because fetuses that develop hydrops fetalis will either be stillborn or may die shortly after birth. there can be early pregnancy termination to prevent serious complications for the baby or mother. studies shows that in 11 to 14 weeks of gestation, sonographic markers can associate affected from unaffected pregnancies. it was found that the most sensitive marker was ct ratio and mca‐psv. parents at risk of having a child with fetal hydrops can continue their pregnancy with regular ultrasounds and intrauterine blood transfusion. babies of such parents are born with no edema or major neurological defects, and eventually, this disease can be cured with haematopoietic stem cell transplantation. a newly developed diagnostic test, called immunochromatography (ic) strip tests, uses monoclonal antibodies to detect hemoglobin barts in red blood cells' lysate. this diagnostic test is validated for positive and negative predictive values. it is also cheap and easy, making regular screening for alpha-thalassemia a plausible possibility. anemia is a factor in fetuses with hemoglobin bart's disease as there is an "increased cardiac output" and hypovolemia as the tissues of the fetus require oxygen because of the gamma globulin's high affinity for oxygen. this deprives the tissues of receiving oxygen to function well. the symptoms of anemia occur within the first trimester. this variant of hemoglobin is so called as it was discovered at st bartholomew's hospital in london, often abbreviated to barts. notes al-allawi na, shamdeen my, rasheed ns (2010). 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"observations on some fast haemoglobins: k, j, n, and bart's". british medical journal. 1 (5076): 929–931. doi:10.1136/bmj.1.5076.929. pmc 2028335. pmid 13523233. proteins that contain heme (hemoproteins)globinshemoglobinsubunitsalpha locus on 16: α hba1 hba2 pseudo ζ hbz θ hbq1 μ hbm beta locus on 11: β hbb δ hbd γ hbg1 hbg2 ε hbe1 tetramersstages of development:embryonic hbe gower 1 (ζ2ε2) hbe gower 2 (α2ε2) hbe portland i (ζ2γ2) hbe portland ii (ζ2β2) fetal hbf/fetal (α2γ2) hba (α2β2) adult hba (α2β2) hba2 (α2δ2) hbf/fetal (α2γ2) pathology: hbh (β4) barts (γ4) hbs (α2βs2) hbc (α2βc2) hbe (α2βe2) hbo (α2βo2) compounds carboxyhemoglobin carbaminohemoglobin oxyhemoglobin/deoxyhemoglobin sulfhemoglobin other human glycated hemoglobin methemoglobin nonhuman chlorocruorin erythrocruorin otherhuman: myoglobin metmyoglobin neuroglobin cytoglobin plant: leghemoglobin other cytochrome cytochrome b cytochrome p450 methemalbumin see also disorders of globin and globulin proteins this article is issued from wikipedia. the text is licensed under creative commons - attribution - sharealike. additional terms may apply for the media files.