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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
- 수록면
- 665 - 667 (3page)
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Congenital erythrocytosis (CE) is a rare and heterogeneous disease. The high oxygen affinity hemoglobin (Hb) variants are the most common cause of CE. Herein, we report a Korean patient with isolated erythrocytosis. A 25-year-old man was referred to our hospital for evaluation of high Hb level (Hb 20.4 g/dL, hematocrit 58%, reticulocyte count 2.90%, white blood cell count 6.83×109/L, and platelet count 195×109/L). Bone marrow biopsy revealed normocellular marrow without myeloproliferative features.
JAK2 (V617F, exon 12), CALR (exon 9), and MPL W515K/L mutations were not detected. P50 (partial pressure at which Hb is half saturated with oxygen), which is an indicator of left-shift of oxygen dissociation curve (high oxygen affinity state), was 14.3 mm Hg (reference value 22.6–29.4 mm Hg). He was suspected to have CE. Mutation analysis of the HBB gene revealed the known Hb variant, Hb Heathrow [β103(G5)Phe→Leu]. This is the first report of Hb Heathrow in Asian.
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참고문헌 (10)
참고문헌 신청
Bento C / 2013 / Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the m
Bento C / 2014 / Genetic basis of congenital erythrocytosis: mutation update and online databases / Hum Mutat 35 : 15 ~ 26
Burnett RW / 1995 / International Federation of Clinical Chemistry (IFCC), Committee on pH, Blood Gases and Electrolytes:approved IFCC recommendation on definitions of quanti
Gordeuk VR / 2004 / Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not
Jang JH / 2014 / Hereditary gene mutations in Korean patients with isolated erythrocytosis / Ann Hematol 93 : 931 ~ 935
Bento C / 2014 / Genetic basis of congenital erythrocytosis: mutation update and online databases / Hum Mutat 35 : 15 ~ 26
Burnett RW / 1995 / International Federation of Clinical Chemistry (IFCC), Committee on pH, Blood Gases and Electrolytes:approved IFCC recommendation on definitions of quanti
Gordeuk VR / 2004 / Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not
Jang JH / 2014 / Hereditary gene mutations in Korean patients with isolated erythrocytosis / Ann Hematol 93 : 931 ~ 935
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