International Journal of Hematology and Oncology
2023, Vol 33, Num 4 Page(s): 027-031
THROMBOPHILIA IN CHILDHOOD: PROTHROMBIN G20210 HETEROZYGOTE MUTATION: A CASE REPORT
GÖKHAN TÜMGÖR1, İLGEN ŞAŞMAZ1, İBRAHİM BAYRAM1, KAHRAMAN TANRIVERDİ1, YURDANUR KILINÇ1
Çukurova Üniversitesi, Tıp Fakültesi, Pediatri AD, ADANA
Keywords: prothrombin 20210 mutation, thrombophilia
Trombophilia is a clinical syndrome that is characterized by recurrent thrombotic events caused by a genetic defect in one of the coagulation regulatory or fibrinolytic proteins. A 21 month-old-boy was referred to our hospital with echimotic and necrotic purpuric lesions on both parts of his gluteal regions and under the right knee. Fresh frozen plasma was given and the patient was heparinized. Debridment of necrotic lesions was performed after the formation of demarcation line. We determined prothrombin mutation G20210 heterozygosity during our investigation for primary thrombosis risk factors. Due to the presence of underlying etiological factors during childhood the risk for thrombosis should always be in mind, and parameters that should be investigated of, has been pinpointed. For this reason, we hereby present a case report and emphasise the parameters that should be investigated.
GÖKHAN TÜMGÖR1, İLGEN ŞAŞMAZ1, İBRAHİM BAYRAM1, KAHRAMAN TANRIVERDİ1, YURDANUR KILINÇ1
Çukurova Üniversitesi, Tıp Fakültesi, Pediatri AD, ADANA
Keywords: prothrombin 20210 mutation, thrombophilia
Trombophilia is a clinical syndrome that is characterized by recurrent thrombotic events caused by a genetic defect in one of the coagulation regulatory or fibrinolytic proteins. A 21 month-old-boy was referred to our hospital with echimotic and necrotic purpuric lesions on both parts of his gluteal regions and under the right knee. Fresh frozen plasma was given and the patient was heparinized. Debridment of necrotic lesions was performed after the formation of demarcation line. We determined prothrombin mutation G20210 heterozygosity during our investigation for primary thrombosis risk factors. Due to the presence of underlying etiological factors during childhood the risk for thrombosis should always be in mind, and parameters that should be investigated of, has been pinpointed. For this reason, we hereby present a case report and emphasise the parameters that should be investigated.