Severe central nervous system thrombotic events in hemoglobin Sabine patient

• Published in: European journal of haematology 2004-01, Vol.72 (1), p.67-70
• Main Authors: Pavlovic, Sonja, Kuzmanovic, Milos, Urosevic, Jelena, Poznanic, Jelena, Zoranovic, Tamara, Djordjevic, Valentina, Rasovic, Nada, Bunjevacki, Gordana, Cvorkov‐Drazic, Milica, Colovic, Milica
• Format: Article
• Language: English
• Subjects: Base Sequence; Brain - pathology; cerebrovascular insults; genetic predisposition to thrombophilia; Hb Sabine; Hemoglobins, Abnormal - genetics; Hemoglobinuria - complications; Humans; Infant; Intracranial Thrombosis - diagnosis; Intracranial Thrombosis - etiology; Magnetic Resonance Imaging; Male; Mutation, Missense
• ISSN: 0902-4441; 1600-0609
• DOI: 10.1046/j.0902-4441.2004.00174.x

: Hemoglobin (Hb) Sabine is a rare, unstable Hb variant resulting from the point mutation in codon 91 (CTG → CCG) of β‐globin gene. We report a case of Hb Sabine patient with mild hemolytic anemia, unusually high Hb F level and severe central nervous system thrombotic disturbances. We have tried to elucidate possible genetic background of this unusual Hb Sabine phenotype. Extremely high level of Hb F and rather mild anemia in our patient could be partially explained by the presence of Gγ Xmn I polymorphism. This case of Hb Sabine, unlike all other reported to date, shows extremely severe thromboembolic complications. It is our opinion that the hypercoagulable state described in thalassemia is not the only factor responsible for this specific clinical state. The presence of MTHFR C677T mutation in heterozygous state found in our patient and unstable Hb Sabine molecules could contribute to development of thromboembolic phenomena. However, it remains unclear whether other factors participate in pathogenesis of the disease. In this paper we emphasize different genetic background of father and son both affected with Hb Sabine, but with markedly different severity of the disease.