WordNet

relating to or having the characteristics of a family; "children of the same familial background"; "familial aggregation"
occurring among members of a family usually by heredity; "an inherited disease"; "familial traits"; "genetically transmitted features" (同)genetic, hereditary, inherited, transmitted, transmissible
a disorder characterized by an abnormal increase in the number of red blood cells in the blood

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1. 赤血球増加症患者に対する診断的アプローチ diagnostic approach to the patient with polycythemia
2. 先天性赤血球増多症および真性多血症の分子学的病因 molecular pathogenesis of congenital polycythemic disorders and polycythemia vera
3. ヘモグロビンの酸素親和性に関する遺伝性疾患 genetic disorders of hemoglobin oxygen affinity
4. 赤血球産生調節 regulation of erythropoiesis
5. 真性多血症が疑われる患者に対する診断的アプローチ diagnostic approach to the patient with suspected polycythemia vera

A Japanese Family with Congenital Erythrocytosis Caused by Haemoglobin Bethesda.

Tamura S1, Tamura T, Gima H, Nishikawa A, Okamoto Y, Kanazawa N, Relvas L, Cunha E, Frances McMullin M, Bento C.
Internal medicine (Tokyo, Japan).Intern Med.2015;54(18):2389-93. doi: 10.2169/internalmedicine.54.4520. Epub 2015 Sep 15.
We herein present a case of congenital erythrocytosis caused by haemoglobin (Hb) Bethesda in a Japanese family. A 55-year-old asymptomatic man was referred to our hospital for the investigation of erythrocytosis, which was present in other members of his family. The patient's serum erythropoietin le
PMID 26370867

Braunstein EM1, Moliterno AR.
Current hematologic malignancy reports.Curr Hematol Malig Rep.2014 Dec;9(4):311-8. doi: 10.1007/s11899-014-0232-3.
The myeloproliferative disorders (MPDs) are a group of hematologic diseases with significant overlap in both clinical phenotype and genetic etiology. While most often caused by acquired somatic mutations in hematopoietic stem cells, the presence of familial clustering in MPD cases suggests that inhe
PMID 25195195

Hong WJ1, Gotlib J2.
Best practice & research. Clinical haematology.Best Pract Res Clin Haematol.2014 Jun;27(2):95-106. doi: 10.1016/j.beha.2014.07.002. Epub 2014 Jul 18.
Hereditary erythrocytosis, thrombocytosis, and neutrophilia are rare inherited syndromes which exhibit Mendelian inheritance. Some patients with primary hereditary erythrocytosis exhibit a mutation in the erythropoietin receptor (EPOR) which is associated with low serum erythropoietin (EPO) levels.
PMID 25189721