Kalıtsal sferositozlu hastalarımızın değerlendirilmesi ve eritrosit zar protein eksikliğinin araştırılması

Abstract

.DOÃWVDO 6IHURVLWR]OX +DVWDODUÃPÃ]ÃQ 'H÷HUOHQGLULOPHVL YH (ULWURVLW =DU 3URWHLQ(NVLNOL÷LQLQ$UDúWÃUÃOPDVÃAylin Canbolat Ayhanøh &HUUDKSDúD 7ÃS )DNÂOWHVL dRFXN 6D÷OÃֈ YH +DVWDOÃNODUà $QDELOLP 'DOà +HPDWRORML-2QNRORML%LOLP'DOÃÖZET0-dDOÃúPDPÃ]GD NDOÃWVDO VIHURVLWR] WDQÃOà /Dú DUDVÃQGDNL KDVWDPÃ] NOLQLNBu hastalardanODERUDWXDU EXOJXODUà YH WHGDYLOHUL LOH UHWURVSHNWLI RODUDN GH÷HUOHQGLULOGL¶VLQGH YH EX KDVWDODUÃQ /Dú VÃQÃUà ROPDNVÃ]ÃQ DLOH WDUDPDVà /DSÃODUDN KDVWDOÃN EXOJXVXolan aile bireylerinde olmak üzere toplam 50 hastada eritrosit zar proteinleri SDS-VDSWDQPÃú3$*( /QWHPL LOH LQFHOHQGL (ULWURVLW ]DU SURWHLQOHULQGHNL HNVLNOLN WLSOHULQLQ GD÷ÃOÃPÃQÃQHNVLNOL÷LQWLSLLOHNOLQLNVSHNWUXPIDUNOÃOÃ÷ÃDUDVÃQGDNLNRUHODV/RQXQDUDúWÃUÃOPDVÃKHGHIOHQGL.DOÃWVDO VIHURVLWR] WDQÃOà KDVWDODUÃPÃ]ÃQ EDúYXUX /Dúà RUWDODPD  /Dú LGL%DúYXUX /DNÃQPDODUà ¶VÃQGD VROXNOXN YH VDUÃOÃN ¶VLQGH X]DPÃú VDUÃOÃN ¶LQGH86*¶GH VDIUD NHVHVL JUÂOPHVL ¶LQGH NDUGHúLQGH KDVWDOÃN EXOXQPDVà LGL+DVWDODUÃPÃ]ÃQ ¶ÂQGH DQQH EDED DUDVÃQGD DNUDED HYOLOL÷L ¶LQGH DLOHOHULQGH .6/NÂV YDUGà 2OJXODUÃPÃ]ÃQ ¶VLQGH IL]LN PXD/HQHGH GDODN SDOSH HGLOHELOPHNWH LGL YH¶VLQGH FP¶GHQ EÂ/ÂN LGL +DVWDOÃ÷ÃQ úLGGHWLQH JUH KDVWDODUÃPÃ]ÃQ GD÷ÃOÃPÃ/DSÃOGÃ÷ÃQGD ¶ WDúÃ/ÃFà ¶Và KDILI ¶L RUWD ¶L D÷ÃU ¶L oRN D÷ÃUNDOÃWVDOVIHURVLWR]LGL(ULWURVLW]DUSURWHLQHNVLNOL÷LDUDúWÃUÃODQKDVWDODUÃQ¶LHUNHN¶XNDGÃQLGL <Dú GD÷ÃOÃPà D/ LOH /ÃO DUDVÃQGD GH÷LúPHNWH ROXS RUWDODPD /Dú  LGL+DVWDODUÃQ ¶VLQGH SURWHLQ HNVLNOL÷L VDSWDQÃUNHQ ¶LQGH HNVLNOLN WHVSLWHGLOPHGL 3URWHLQ HNVLNOL÷L JUÂOHQ ROJXODU LOH JUÂOPH/HQOHU DUDVÃQGD LVWDWLVWLNVHO RODUDNyoktu (p> 3URWHLQ HNVLNOL÷L VDSWDQDQ KDVWDODUÃQ ¶LDQODPOà ELU IDUNOÃOÃNNDGÃQ ¶X HUNHN ROXS SURWHLQ HNVLNOL÷L LOH FLQVL/HW DUDVÃQGD DQODPOà ELU LOLúNLgörülmedi. Tespit edilen protein eksiklikleri 11 hastada (%22) spektrin, 4 hastada (%8)ankirin, 4 hastada (%8) B4.2, 1 hastada (%2) kombine spektrin + B 4.2 ve 1 hastada (%2)spektrin + ankirin idi.6RQXo RODUDN oDOÃúPDPÃ]GD EL]LP KDVWD JUXEXPX]GD HQ VÃN JUÂOHQ HULWURVLW ]DUSURWHLQ HNVLNOL÷L L]ROH YH/D NRPELQH RODUDN VSHNWULQ HNVLNOL÷L LGL +DVWDOÃ÷ÃQ NOLQLN VH/UL YHODERUDWXDU EXOJXODUà LOH SURWHLQ HNVLNOL÷LQLQ EXOXQPDVà YH/D WLSL LOH ELU NRUHODV/RQXQXQROPDGÃ÷ÃJUÂOGÂ

Evaluation and Red Cell Membrane Protein Deficiencies of Our Patientswith Hereditary SpherocytosisAylin Canbolat AyhanIstanbul University, Cerrahpasa Medical School, Pediatric Hematology-OncologyDepartment, IstanbulSUMMARYHereditary spherocytosis is an inherited erythrocyte membrane disorder characterized byhemolytic anemia. Clinical manifestations and membrane abnormalities are heterogeneous.In this study 97 children aged between 0-/HDUVDGPLWWHGWRøVWDQEXO8QLYHUVLW/&HUUDKSDVDMedical Faculty Pediatric Hematology-Oncology Department with the diagnosis of hereditaryspherocytosis were evaluated retrospectively and using sodium dodecyl sulfatepolyacrylamide gel electrophoresis (SDS-PAGE) method erythrocyte membrane proteindefects were analyzed in 50 (27 patients and their family members diagnosed as hereditaryspherocytosis) of hereditary spherocytosis cases.The average age of our patients on admission was 4,5±4,24 years. The complaints of ourpatients were fatigue and paleness in 72,16%, neonatal jaundice in 7,22%, cholelithiasis in1%; 19,58% of the cases were evaluated because of another ill child in the family. Familyhistory was present in 27,8% of our cases. The spleen was enlarged in 73,2% of our cases.The disease was mild in 20,6%, moderate in 49,5%, severe in 16,5%, very severe in 3,1% ofour cases and 10,3% were traits.We observed erythrocyte membrane protein deficiency in 21 (42%) patients. In 29 (58%)hereditary spherocytosis patients protein defects were not demonstrated. No significantdifferances were found statistically between these two groups (p>0,05). We detected spectrindeficiency in 22% (11/50) of cases, ankyrin deficiency in 8% (4/50), B 4.2 deficiency in 8%(4/50), combined spectrin and B 4.2 deficiency in 2% (1/50) and combined spectrin andankyrin deficiency in 2% (1/50).In conclusion electrophoresis of the red cell membrane proteins allows the identification ofthe protein deficiency related to hereditary spherocytosis. Our study showed that in ourpatients spectrin deficiency is the most comman erythrocyte membrane defect and there is nocorrelation observed between clinical, laboratory findings and membrane proteindeficiencies.