Hemofili A ve B hastalarının kız kardeşlerinde kanama semptomları ve kanamaya yönelik laboratuvar parametrelerinin değerlendirilmesi
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Tarih
2016
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info:eu-repo/semantics/embargoedAccess
Özet
Giriş ve amaç: Hemofili A (faktör 8 eksikliği ) ve B (faktör 9 eksikliği) genetik olarak X'e bağlı resesif geçiş gösterir ve erkekleri etkiler. Ancak bu kişilerin anneleri ve kızları genetik bozukluğun taşıyıcılarıdır. Hemofililer erkeklerde kanama eğilimi açısından çok iyi bilinmesine rağmen bayan taşıyıcılarda nadiren farkına varılmaktadır. Oysaki bayan taşıyıcılar karşımıza sadece artmış kanama eğilimi ile değil bazen sık ve aşırı kanama ile de gelebilmektedir. Çalışmadaki amacımız hemofilili hastaların kız kardeşlerindeki faktör düzeylerini ve kanama riskini belirleyip, müdahaleler öncesi profilaktik uygulamalar ve uzamış kanamalar açısından ailelerin ve hekimlerin dikkatini bu yöne çekmektir. Materyal ve metod: Hemofili hastalarının kız kardeşlerinde laboratuvar ve klinik kanama eğilimlerini belirlemek için çalışma dizaynı yapıldı. Çalışmaya ailesinde en az bir hemofili A veya B hastası olan, menarş gören 46 kız kardeş dahil edildi. Sağlıklı, hemofili A veya B taşıyıcısı olmadığı bilinen 43 kadın kontrol grubu olarak seçildi. Bu amaçla kız kardeşlerde laboratuvar olarak aPTT, tam kan, VWF, kanama zamanı ve erkek kardeşi hemofili A hastası olanlarda faktör 8, hemofili B hastası olanlarda faktör 9 düzeyleri çalışıldı. Kontrol grubu ile karşılaştırıldı. Kız kardeşlerin kişisel karakteristikleri, etkilenmiş olan aile bireylerinde hemofilinin karakteristikleri, zorunlu taşıyıcılarda hemofilili çocuk sayısı, spontan ve uyarılmış kanamalarda uzamış kanama eğilimlerine ilişkin detaylı öyküleri anket formu düzenlenerek sorgulandı. Aynı sorgulama kontrol grubunda da yapıldı. Bulgular: Kız kardeşlerin ailelerinde hemofili A olanların sayısı 39 (%84,8), hemofili B olanların sayısı 7 (%15,2) idi. Ailede hafif hemofilili hasta olan kız kardeş sayısı 6 (%13), orta hemofilili olan 4 (%8,7), ağır hemofilili olan 36 (%78,3) kişiydi. Hemofilili hastaların kız kardeşlerinin laboratuvar bulguları kontrol grubu ile karşılaştırıldığında ortalama faktör düzeyleri anlamlı olarak kız kardeşlerde düşük bulundu (sırasıyla 60,13±37,91%, 80,04±23,35 % , p: 0,004). Faktör 8 ve 9 ayrı ayrı değerlendirildiğinde kız kardeşlerde faktör 8 düzeyi kontrol grubuna göre anlamlı olarak düşük bulunurken (sırasıyla 53,77±32,07 %,75,06±20,55 %, p:0,001), faktör 9 düzeyleri arasında anlamlı farklılık saptanmadı (sırasıyla 90,36±50,41%, 110,71±15,02%, p:0,361). Kız kardeşlerin aPTT değerleri kontrol grubu ile karşılaştırıldığında kız kardeşlerde aPTT 'nin anlamlı olarak uzadığı görüldü (sırasıyla 30,5±4,08 sn, 27,2±3,13 sn, p: 0,000). Spontan burun kanaması ve ayrıca spontan deri morarmaları sorgulandığında kız kardeşlerden 13 'ünde (%28,3) tanımlanmış olup kontrol grubunda 7 'sinde (%16,3) spontan burun kanaması ve 8 'inde (18,6) spontan deri morarmaları tarif edilmiştir. Kız kardeşlerden 7 'sinde (%15,2) küçük yaralanmalar sonrası kanama 10 dakikadan uzun sürmüşken kontrol grubunda küçük yaralanmalar sonrası kanama 10 dakikadan kısa sürmüştür. Kız kardeşlerden diş çekimi yapılan 27 kişiden 12'sinde (%44,4), kontrol grubunda 31 kişiden 2 'sinde (%6,5) diş çekimi sonrası uzamış kanama nedeni ile ilave tedavi gerekmiştir. Kız kardeşlerden cerrahi yapılan 17 kişiden 6 'sının (%35,1) kontrol grubundan 22 kişiden 2 'sinin (%9,1) cerrahi sonrası uzamış kanama nedeni ile tedavi gereksinimi olmuştur. Doğum yapan 12 kız kardeşten 3 'ünün (%25) doğum sonrası kanaması 6 haftadan uzun sürmüştür. Kız kardeşlerden 15 'inde (%32,6) mensturasyon kanaması 7 günden uzun sürmekteyken kontrol grubunda bir kişi 7 günden uzun süren mensturasyon kanaması tarif etmiştir. Kırk altı kız kardeşten 21 'inin (%45,7) faktör düzeyi %5-40 arasında, 7 'sinin ( %15,2) faktör düzeyi %41-60 arasında ve 18 'inin (%39,1) faktör düzeyi %61 ve üzerinde bulundu. Pıhtılaşma faktör düşüklüğü ile spontan burun kanaması, ağız içi ve diş eti kanamaları arasında ilişki saptandı (p<0,05). Hemofili hastalarının kız kardeşleri, pıhtılaşma faktör düzeylerinden bağımsız olarak sağlıklı gruba göre daha fazla küçük yaralanmalar sonrası uzamış kanama, artmış yaralanma sıklığı, diş çekimi sonrası uzamış kanama nedeni ile ilave tedavi gereksinimi, uzamış menstural periyod kanaması ve doğum sonrası uzamış kanama tarif etmektedirler (p<0,05). Spontan burun kanaması (p:0,176), spontan deri morarmaları (p:0,284), operasyon sonrası uzamış kanamalarda (p:0,260) iki grup arasında anlamlı farklılık görülmedi. Ailedeki hemofili şiddeti ile faktör düzeyleri arasında istatiksel olarak anlamlı farklılık bulunmadı (p:0,398,). Ailedeki hemofili şiddeti ile spontan burun kanaması dışında kanamaya yatkınlık saptanmamıştır. Sonuç olarak; Hemofili hastalarının kız kardeşlerinde faktör düzeyleri daha düşük ve kontrol grubuna göre daha fazla küçük yaralanmalar sonrası uzamış kanama, artmış yaralanma sıklığı, diş çekimi sonrası uzamış kanama nedeni ile ilave tedavi gereksinimi, uzamış menstural periyod kanaması ve doğum sonrası uzamış kanamaları olmaktadır. Bu nedenle zorunlu ve olası taşıyıcılarda faktör düzeylerinin belirlenmesi medikal işlemler ve uzamış kanamalar açısından önemlidir. Anahtar sözcükler; Hemofili, hemofili hastalarının kız kardeşleri, pıhtılaşma faktörleri, kanama eğilimi, ailedeki hemofili şiddeti
Intraduction and purpose: Hemophilia is an X chromosome linked hereditary bleeding disorder, inherited recessively, caused by deficiency of factor 8 or factor 9 and mostly men are affected. However, mothers and sisters of affected men are heterozygous carriers of hemophilia. Hemophilia is a well known bleeding disorder in men, but it is seldom recognized in female carriers of hemophilia. Whereas female carriers might not only have an increased tendency of bleeding , but bleeding symptoms may be frequent and severe. The aim of this study is evaluation of clotting factor levels and determination tendency of bleeding in sisters and engage attention of phsysicians and families to prevent prolonged bleeding especially before medical interventions and implementation of prophylactic therapy. Materials and Methods: This study is designed to determine labrotory and clinical tendency of bleeding in sisters. Forty six female who have menstural cycles and have at least one hemophilia A or B patients in their family were included in the study. Forty three female who were healthy and have no hemophilia A and B patients in their family were choosen for control group. For these purpose laboratory parameters aPTT, complete blood count , vwf, bleeding time and factor 8 were studied in sisters of patients with hemophilia A patients , factor 9 for sisters of patients with hemophilia B were analyzed and compared with control group. Demographic features of sisters of patients with hemophilia, characteristics and severity of the disease in the affected family and number of children obligatory carriers have , spontaneous and induced prolonged bleeding tendency interrogated by a detailed questionnaire. This interrogation was also applyed to control group. Results: Forty six sisters of patients with hemophilia were included the study. Thirty nine (%84,8) of them were sisters of patients with hemophilia A and 7 (%15,2) of them were sisters of patients with hemophilia B. Six (%13) of them have a mild hemophilia, 4 (%8,7) of them have moderate hemophilia and 36 (%78,3) of them have severe hemophilia in their family. Laboratory results of sisters of a hemophilia patient were compared with the control group. The mean clotting factor levels were significantly decreased in sisters of patients with hemophilia ( 60,13±37,91%, 80,04±23,35 % respectively , p:0,004). Factor 8 levels were significantly decreased ( 53,77±32,07 %,75 and ,06±20,55 % respectively , p:0,001) in sisters of patients with hemophilia compared with control group. There was no significant difference between two group of factor 9 levels (respectively 90,36±50,41%, 110,71±15,02%, p:0,361). aPTT was found significantly prolonged in sisters of patients with hemophilia compared with control group. (respectively 30,5±4,08 sn, 27,2±3,13 sn, p: 0,000). Spontaneous nose bleedings were defined in 13 (%28,3) sisters of patients with hemophilia and in 7 (%16,3) of controle group. Spontaneous cutaneous bruising was defined in 13 (%28,3) of sisters of patients with hemophilia and 8 (%18,6) of controle group. Prolonged bleeding longer than 10 minutes after minor traumas was stated by 7 (% 15,2) of sisters of patients with hemophilia versus none of controle group . Requirement of additional medical treatment for prolonged bleeding after tooth extraction was noted in 12 (% 44,4) of sisters of patients with hemophilia who have experienced tooth extraction compared with 2 (%6,5) of 31 who have experienced tooth extraction of controle group. Requirement of additional medical treatment for prolonged bleeding after surgery was encountered in 6 (%35,1) of 17 sisters of patients with hemophilia who have experienced surgery compared with 2 (%9,1) of 22 who have experienced surgery of controle group. Postpartum bleeding longer than 6 weeks was stated by 3 (% 25) of 12 who gave birth of sisters of patients with hemophilia. Menorrhagia longer than 7 days was reported by 15 (%32,6) of sisters of a hemophilia patient whereas one of controle group. Clotting factor levels was measured between % 5-40 in 21 (% 45,7) , % 41-60 of 7 and above % 61 in 18 of 46 sisters of patients with hemophilia. There was significant correlation between clotting factor levels and spontaneous nose bleeding, oral mucosal bleeding and gum bleeding (p<0.05) . Sisters of patients with hemophilia experienced more bleeding after minor traumas, requirement of additional medical treatment for prolonged bleeding after tooth extraction, menorrhagia and prolonged postpartum bleeding with respect to controle group independent from level of clotting factor (p<0.05). Spontaneous nose bleeding (p:0,176), cutaneous bruising ( p:0,284) and prolonged bleeding after surgery (p:0,260 ) was found no significance between two groups. Association between severity of hemophilia in the family and clotting factor levels was found no significance (p:0,398). There were no relationship between severity of hemophilia in the family and bleeding tendency except spontaneous nose bleeding. In the conclusion ; clotting factor levels were decreased in the sisters of patients with hemophilia and they experience more frequently prolonged bleeding after minor traumas and requirement of additional medical treatment for prolonged bleeding after tooth extraction menorragia and prolonged postpartum bleeding .Therefore measurement of clotting factor levels and implementation of medical interventions is considarable to prevent prolonged bleeding for obligate and possible carriers of hemophilia . Key words; Hemophilia, sisters of patients with hemophilia, clotting factor, bleeding tendency, severity of hemophilia in the family
Intraduction and purpose: Hemophilia is an X chromosome linked hereditary bleeding disorder, inherited recessively, caused by deficiency of factor 8 or factor 9 and mostly men are affected. However, mothers and sisters of affected men are heterozygous carriers of hemophilia. Hemophilia is a well known bleeding disorder in men, but it is seldom recognized in female carriers of hemophilia. Whereas female carriers might not only have an increased tendency of bleeding , but bleeding symptoms may be frequent and severe. The aim of this study is evaluation of clotting factor levels and determination tendency of bleeding in sisters and engage attention of phsysicians and families to prevent prolonged bleeding especially before medical interventions and implementation of prophylactic therapy. Materials and Methods: This study is designed to determine labrotory and clinical tendency of bleeding in sisters. Forty six female who have menstural cycles and have at least one hemophilia A or B patients in their family were included in the study. Forty three female who were healthy and have no hemophilia A and B patients in their family were choosen for control group. For these purpose laboratory parameters aPTT, complete blood count , vwf, bleeding time and factor 8 were studied in sisters of patients with hemophilia A patients , factor 9 for sisters of patients with hemophilia B were analyzed and compared with control group. Demographic features of sisters of patients with hemophilia, characteristics and severity of the disease in the affected family and number of children obligatory carriers have , spontaneous and induced prolonged bleeding tendency interrogated by a detailed questionnaire. This interrogation was also applyed to control group. Results: Forty six sisters of patients with hemophilia were included the study. Thirty nine (%84,8) of them were sisters of patients with hemophilia A and 7 (%15,2) of them were sisters of patients with hemophilia B. Six (%13) of them have a mild hemophilia, 4 (%8,7) of them have moderate hemophilia and 36 (%78,3) of them have severe hemophilia in their family. Laboratory results of sisters of a hemophilia patient were compared with the control group. The mean clotting factor levels were significantly decreased in sisters of patients with hemophilia ( 60,13±37,91%, 80,04±23,35 % respectively , p:0,004). Factor 8 levels were significantly decreased ( 53,77±32,07 %,75 and ,06±20,55 % respectively , p:0,001) in sisters of patients with hemophilia compared with control group. There was no significant difference between two group of factor 9 levels (respectively 90,36±50,41%, 110,71±15,02%, p:0,361). aPTT was found significantly prolonged in sisters of patients with hemophilia compared with control group. (respectively 30,5±4,08 sn, 27,2±3,13 sn, p: 0,000). Spontaneous nose bleedings were defined in 13 (%28,3) sisters of patients with hemophilia and in 7 (%16,3) of controle group. Spontaneous cutaneous bruising was defined in 13 (%28,3) of sisters of patients with hemophilia and 8 (%18,6) of controle group. Prolonged bleeding longer than 10 minutes after minor traumas was stated by 7 (% 15,2) of sisters of patients with hemophilia versus none of controle group . Requirement of additional medical treatment for prolonged bleeding after tooth extraction was noted in 12 (% 44,4) of sisters of patients with hemophilia who have experienced tooth extraction compared with 2 (%6,5) of 31 who have experienced tooth extraction of controle group. Requirement of additional medical treatment for prolonged bleeding after surgery was encountered in 6 (%35,1) of 17 sisters of patients with hemophilia who have experienced surgery compared with 2 (%9,1) of 22 who have experienced surgery of controle group. Postpartum bleeding longer than 6 weeks was stated by 3 (% 25) of 12 who gave birth of sisters of patients with hemophilia. Menorrhagia longer than 7 days was reported by 15 (%32,6) of sisters of a hemophilia patient whereas one of controle group. Clotting factor levels was measured between % 5-40 in 21 (% 45,7) , % 41-60 of 7 and above % 61 in 18 of 46 sisters of patients with hemophilia. There was significant correlation between clotting factor levels and spontaneous nose bleeding, oral mucosal bleeding and gum bleeding (p<0.05) . Sisters of patients with hemophilia experienced more bleeding after minor traumas, requirement of additional medical treatment for prolonged bleeding after tooth extraction, menorrhagia and prolonged postpartum bleeding with respect to controle group independent from level of clotting factor (p<0.05). Spontaneous nose bleeding (p:0,176), cutaneous bruising ( p:0,284) and prolonged bleeding after surgery (p:0,260 ) was found no significance between two groups. Association between severity of hemophilia in the family and clotting factor levels was found no significance (p:0,398). There were no relationship between severity of hemophilia in the family and bleeding tendency except spontaneous nose bleeding. In the conclusion ; clotting factor levels were decreased in the sisters of patients with hemophilia and they experience more frequently prolonged bleeding after minor traumas and requirement of additional medical treatment for prolonged bleeding after tooth extraction menorragia and prolonged postpartum bleeding .Therefore measurement of clotting factor levels and implementation of medical interventions is considarable to prevent prolonged bleeding for obligate and possible carriers of hemophilia . Key words; Hemophilia, sisters of patients with hemophilia, clotting factor, bleeding tendency, severity of hemophilia in the family
Açıklama
Anahtar Kelimeler
Hemofili, Hemophilia, Hemofili hastalarının kız kardeşleri, Sisters of patients with hemophilia, Pıhtılaşma faktörleri, Clotting factor, Kanama eğilimi, Bleeding tendency, Ailedeki hemofili şiddeti, Severity of hemophilia in the family
