Multiple cerebral emboli in a homozygous $beta$-thalassaemia patient due to factor V 1299 (His-Arg) 4070 A-G mutation

We report a patient with cerebral thromboembolic episode triggered by a minor blood group incompatibility in which the underlying defect of factor V 1299 (His-Arg) was detected three years after his death.

📌 3 Key Takeaways

🎯

Objective & Hypothesis:Thromboembolic episodes are quite rare in beta thalassemia major patients although there is a tendency for thrombosis in haemolytic anaemias.

📊

Key Findings & Data:Thromboembolic episodes are quite rare in beta thalassemia major patients although there is a tendency for thrombosis in haemolytic anaemias.

💡

Conclusion & Impact:We report a patient with cerebral thromboembolic episode triggered by a minor blood group incompatibility in which the underlying defect of factor V 1299 (His-Arg) was detected three years after his death.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Domain Parameters

Abstract

Thromboembolic episodes are quite rare in beta thalassemia major patients although there is a tendency for thrombosis in haemolytic anaemias. We report a patient with cerebral thromboembolic episode triggered by a minor blood group incompatibility in which the underlying defect of factor V 1299 (His-Arg) was detected three years after his death.

🔖

Cite This Article

AKAR, N., CİN, Ş., DEDA, G., KEMAHLI, S., UYSAL, Z., YILMAZ, E., AKAR, E. (2022). Multiple cerebral emboli in a homozygous $beta$-thalassaemia patient due to factor V 1299 (His-Arg) 4070 A-G mutation. Turkish Journal of Hematology, Cilt: 17 - Sayı: 3, 133–136. https://ajindex.com/articles/607138

📄 Full Text PDF Viewer

Open in New Tab ↗

↗New Tab

📄

PDF görüntüleyici hazırlanıyor...

References (13)

Constantopoulos A, Matsaniotis N. Hypertension, convulsions and cerebral haemorrhage in thalassemic patients after multiple blood transfusions. Helvetica Paediatrica Acta 1980;35:269-71
Jensen H, Menis V, Guarin L, Baffa MC, Piomelli S. Protein C and protein S deficiencies in chronically transfused patients with hemoglobinopathy. Thromb Haemost 1991;65:1206
Logothetis J, Constanoulakis M, Economidou J, Stefanis C, Hakas P, Agoustaki O, Sofraniadou K, Loewenson B, Bilek M. Thalassemia major (homozygous betathalassemia). A survey fo 138 cases with emphasis on neurologic and muscular aspects. Neurology, 1972;22:294-304
Musumeci S, Leonardi S, Di Rio R, Fischer A, Di Costa G. Protein C and antithrombin III in polytransfused thalassemic patients. Acta Haematol 1987; 77:30-3
Sinniah D, Ekert H, Bosco J, Nathan L, Koe SL. Intracranial hemorrhage and circulating coagulation inhibitor in, b-thalassemia major. J Pediatr 1981;99: 700-3
Sinniah D, Vignaendra V, Ahmad K. Neurological complications in, b-thalassemia major. Archives of Disease in Childhood 1977;52:977-9
Wasi P, Na-Nakorn S, Pootrakul P, Sonakul D, Piankijagum A, Pachare P. A syndrome of hypertension, convulsion and cerebral hemorrhage in thalassemic patients after multeple blood transfusions. Lancet 1978;16:602-4
Kemahlı S, Gürman C, Eğin Y, Yıldırmak Y, Sipahi T, Uysal Z, Akar N, Cin Þ, Arcasoy A. Hypercoagulability in Children With Thalassemia Major. Clin Appl Thrombosis/Hemostasis 1997;3(2):129-32
Borgna Pigmatti C, Camelli V, Caruso V, Dore F, De Mattia D, Di Palma A, Di Gregorio F, Romeo MA, Longhi R, Mangiogli A, Melevendi C, Pizzarelli G, Musumeci S. Thromboembolic events in beta thalassemia major: An Italian multicenter study. Acta Haematol 1998;99:76-9
Akar N, Kemahlı S, Uysal Z, Cin Ş. Thromboembolism in, ß-Thalassemia Major. Acta Haematol 1998; 100:166
Bernardi F, Faioni EM, Castoldi E, Lunghi B, Castaman G, Sacchi E, Manucci PM. A factor V genetic component differing from Factor V R 506 Q contributes to the activated protein C resistance phenotype. Blood 1997;90:1552
Castaman G, Lunghi B, Missiaghia E, Bernardi F, Rodeghiero F. Phenotypic homozygous activated protein C resistance associated with compound heterozygosity for Arg 506 Gln (Factor V Leiden) and His 1299 Arg substitutions in factor V. Br J Haematol 1997;99:257-61
Lunghi B, Iacoviello L, Gemmati D, di Iasio MG, Castoldi E, Pinotti M, Castaman G, Redaelli R, Mariani G, Marchetti