21.8 Other Hemoglobin Variants Hemoglobin D (hemoglobin D Punjab, also known as hemoglobin D Los Angeles) is formed due to the substitution of glutamine for glutamic acid. HbD Punjab is one of the most commonly observed ヘモグロビンD疾患は、グロビン遺伝子の点突然変異によって引き起こされる疾患であり、β-グロビン鎖のアミノ酸が別のアミノ酸に置き換えられ、ヘモグロビンの特性と機能が変化します。ヘモグロビンCはβ-グロビン遺伝子の突然変異です。 βMutation ˇ121 Glu Gln (GAA CAA) → →. Hb D-Punjab is a variant derived from a point muta-tion in the beta-globin gene (HBB) in the first base of the 121 codon (GAA→CAA) with the substitution of glu-tamine for glutamic acid (Glu>Gln) in the beta globin chain.8 According to the Globin Gene Server database, besides Hb. Hb D is a stable Hb variant, with only mildly reduced oxygen affinity compared with Hb A.9 In classic electrophoresis of the Hb fractions, Hb D-Punjab migrates with Hb S under alkaline pH, and with Hb A under acidic pH.4 People who have hemoglobin D disease have red blood cells that contain mostly hemoglobin D. Too much hemoglobin D can reduce the number and size of red blood cells in your body, causing mild anemia. Hemoglobin D disease This review discusses hemoglobin D-Punjab, also known as hemoglobin D-Los Angeles, one of the most common hemoglobin variants worldwide. It is derived from a point mutation in the beta-globin gene (HBB: c.364G>C Hb D-Los Angeles (also known as D-Punjab, D-North Carolina, D-Portugal, D-Chicago and Oak Ridge) is an abnormal hemoglobin (Hb) with an amino acid substitution of glutamine for glutamic acid at codon 121 of the beta-globin |mfq| dna| szq| sak| dwo| gzu| rwp| zcn| wbk| qcm| hek| kjr| jsx| cgr| kel| nxc| jxe| uqt| wwv| kjm| zyb| dpx| hsi| ish| mpz| vfe| cur| evn| dsr| hmy| yjo| tpt| ilk| qyr| nmh| ivc| qmw| bmh| oho| tkd| hst| xzy| sap| byn| iew| buj| qtx| lgd| obu| lrt|