WordNet

the 1st letter of the Roman alphabet (同)a
the blood group whose red cells carry the A antigen (同)type_A, group A
the 8th letter of the Roman alphabet (同)h

PrepTutorEJDIC

answer / ampere
hydrogenの化学記号
鉛筆の硬度 / 《俗》heroin
hemoglobin

UpToDate Contents

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1. Structure and function of normal hemoglobins
2. サラセミアの臨床症状および診断 clinical manifestations and diagnosis of the thalassemias
3. 異常ヘモグロビン症の検査室診断 laboratory diagnosis of the hemoglobinopathies
4. 鎌状赤血球障害の診断 diagnosis of sickle cell disorders
5. 健常者および患者における胎児性ヘモグロビン（ヘモグロビンF） fetal hemoglobin hemoglobin f in health and disease

English Journal

Coexistence of Two β-Globin Gene Deletions in a Chinese Girl with β-Thalassemia Minor.

Huang G, Li P, Li YX, Ye LZ.Author information Department of Clinical Laboratory , Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou, People's Republic China.AbstractAbstract This study reports a rare case of β(41/42,Cap)/β(A) genotype in a girl with β-thalassemia (β-thal) minor. The 13-month-old Chinese proband suffered anemia, diarrhea, stunted growth and emaciation. The routine polymerase chain reaction-reverse dot-blot (PCR-RDB) test result for β-thal mutations indicated that she was a compound heterozygote for β(41/42) and β(Cap). However, the complete blood cell (CBC) test gave the following results: mean corpuscular volume (MCV) 79.8 fL, mean corpuscular hemoglobin (MCH) 19.9 pg, with a Hb A2 value of 5.66%, suggesting that the proband also was β-thal minor. The proband's father showed typical microcytic hypochromic anemia characteristics with a decreased MCV and MCH (63.1 fL and 20.9 pg, respectively) and an increased level of Hb A2 (5.60%), while the proband's mother had normal levels of MCV, MCH and Hb A2. The PCR-RDB test result showed her father was also a compound heterozygote for the β(41/42) (HBB: c.126_129delCTTT) and β(Cap) (HBB: c.-11_-8delAAAC) mutations and her mother was normal. Finally, DNA sequencing identified that the β(41/42) and β(Cap) mutations of the proband were inherited from her father and located on one β-globin gene, suggesting that the proband's genotype is β(41/42,Cap)/β(A).
Hemoglobin.Hemoglobin.2014;38(1):70-2. doi: 10.3109/03630269.2013.853673. Epub 2013 Nov 7.
Abstract This study reports a rare case of β(41/42,Cap)/β(A) genotype in a girl with β-thalassemia (β-thal) minor. The 13-month-old Chinese proband suffered anemia, diarrhea, stunted growth and emaciation. The routine polymerase chain reaction-reverse dot-blot (PCR-RDB) test result for β-thal m
PMID 24200214

Masking of a β-Thalassemia Determinant by a Novel δ-Globin Gene Defect [Hb A2-Saurashtra or δ100(G2)Pro→Ser; HBD: c.301C>T] in Cis.

Colaco S, Trivedi A, Colah RB, Ghosh K, Nadkarni AH.Author information National Institute of Immunohaematology, Indian Council of Medical Research (ICMR), King Edward Memorial Hospital Campus , Parel, Mumbai , India and.AbstractAbstract The molecular basis of β-thalassemia (β-thal) syndromes have been well documented, while the spectrum of mutations causing δ-thalassemia (δ-thal) has not been well characterized. δ-Thalassemia has no clinical symptoms but its coinheritance with heterozygous β-thal may cause misdiagnosis, especially in countries with a high prevalence of β-thal where prevention programs have been implemented. The coinheritance of β- and δ-globin mutations in India is not common. This association may interfere with correct diagnosis and genetic counseling of β-thal in screening programs. Here we report two families showing borderline Hb A2 levels belonging to the Koli Community, indigenous to the Saurashtra Province of Gujarat, India. They were referred to us for thalassemia molecular screening as they had children clinically presenting before 2 years of age and requiring regular blood transfusions. Interestingly, both families carried a novel δ-globin gene mutation at codon 100 (C>T) linked to a polyadenylation (polyA) site [AATAAA>A(-AATAA)] 5 bp deletional β-thal mutation, never before reported in the Indian population. This report highlights the importance of considering δ-globin gene analysis during β-thal screening to avoid false-negative results in the detection of at-risk couples. It also highlights how incomplete diagnosis of a borderline or normal Hb A2 level may lead to the probable birth of a β-thal major (β-TM) child. This has important implications in prenatal diagnosis.
Hemoglobin.Hemoglobin.2014;38(1):24-7. doi: 10.3109/03630269.2013.852568. Epub 2013 Nov 7.
Abstract The molecular basis of β-thalassemia (β-thal) syndromes have been well documented, while the spectrum of mutations causing δ-thalassemia (δ-thal) has not been well characterized. δ-Thalassemia has no clinical symptoms but its coinheritance with heterozygous β-thal may cause misdiagnos
PMID 24200152

Hemoglobin analyses in the Netherlands reveal more than 80 different variants including six novel ones.

van Zwieten R, Veldthuis M, Delzenne B, Berghuis J, Groen J, Ait Ichou F, Clifford E, Harteveld CL, Stroobants AK.Author information Laboratory of Red Blood Cell Diagnostics, Sanquin Blood Supply Organization , Amsterdam , The Netherlands.AbstractAbstract More than 20 000 blood samples of individuals living in The Netherlands and suspected of hemolytic anemia or diabetes were analyzed by high resolution cation exchange high performance liquid chromatography (HPLC). Besides common disease-related hemoglobins (Hbs), rare variants were also detected. The variant Hbs were retrospectively analyzed by capillary zone electrophoresis (CZE) and by isoelectric focusing (IEF). For unambiguous identification, the globin genes were sequenced. Most of the 80 Hb variants detected by initial screening on HPLC were also separated by capillary electrophoresis (CE), but a few variants were only detectable with one of these methods. Some variants were unstable, had thalassemic properties or increased oxygen affinity, and some interfered with Hb A2 measurement, detection of sickle cell Hb or Hb A1c quantification. Two of the six novel variants, Hb Enschede (HBA2: c.308G > A, p.Ser103Asn) and Hb Weesp (HBA1: c.301C > T, p.Leu101Phe), had no clinical consequences. In contrast, two others appeared clinically significant: Hb Ede (HBB: c.53A > T, p.Lys18Met) caused thalassemia and Hb Waterland (HBB: c.428C > T, pAla143Val) was related to mild polycytemia. Hb A2-Venlo (HBD: c.193G > A, p.Gly65Ser) and Hb A2-Rotterdam (HBD: c.38A > C, p.Asn13Thr) interfered with Hb A2 quantification. This survey shows that HPLC analysis followed by globin gene sequencing of rare variants is an effective method to reveal Hb variants.
Hemoglobin.Hemoglobin.2014;38(1):1-7. doi: 10.3109/03630269.2013.849608. Epub 2013 Nov 7.
Abstract More than 20 000 blood samples of individuals living in The Netherlands and suspected of hemolytic anemia or diabetes were analyzed by high resolution cation exchange high performance liquid chromatography (HPLC). Besides common disease-related hemoglobins (Hbs), rare variants were also d
PMID 24200101

Japanese Journal

胃潰瘍の出血により急性高心拍出量性心不全を呈した高齢者大球性貧血の1例

松崎弦,芦田映直,赤沼真夫,藤井潤,世古義規
日本老年医学会雑誌 50(3), 409-412, 2013
… 定していた．胃出血の6カ月前の血液検査ではヘモグロビン（Hb）14.2 g/dl，平均赤血球容積（MCV）97 flであった．胃出血によるタール便はあったが平常の生活を送っており，その6日後の血液検査でHb 8.4 g/dl，MCV 103 flの大球性貧血が発見され翌日入院となった．入院時の胃内視鏡検査では出血を認めなかったが活動期（A2期）であり，貧血は胃潰瘍からの出血によるものと診断した …
NAID 130004485882

配偶者間及び同性愛者間で認められたB型急性肝炎例を感染源とするB型肝炎ウイルスA2型株感染

相川達也,津田文男,上野ちさと [他],間宮孝,杉山弘明,添田敦子,池澤和人,長嶋茂雄,高橋雅春,岡本宏明
肝臓 54(6), 373-380, 2013
… A（A2）HBV株による急性肝炎が拡がりつつあるとされている．しかしその感染源や感染経路が明確になっている症例の報告はない．我々が今回経験したA2株による急性肝炎の2症例は，その感染源がいずれも，先立って発症したB型急性肝炎例であった．これら4例の感染HBV株は，居住区域が異なるにも関わらず，全塩基配列に於いて互いに99.9％以上の一致率を示し，国内の土着化A2株 …
NAID 130003368690

フェナセチンによるメトヘモグロビン血症におけるアリルアセタミドデアセチラーゼの関与

小林祐喜,深見達基,樋口良太,中島美紀,横井毅
日本毒性学会学術年会 39.1(0), P-160, 2012
… 【目的】解熱鎮痛薬フェナセチンは生体内で活性代謝物アセトアミノフェン (APAP) へ変換されるプロドラッグであるが、メトヘモグロビン（Met-Hb）血症や腎障害などの副作用が原因で市場から撤退した。 …
NAID 130005008761