Alpha thalassemia in a Symptomatic Carrier of Familial Mediterranean Fever
Abstract
Alpha thalassemia and Familial Mediterranean Fever (FMF) are two diseases that affect the same societies native to the Mediterranean basin and have overlapping genetic localizations. Deletions resulting in alpha thalassemia have the potential to affect the neighboring MEFV gene (MEFV) and to lead to symptoms in FMF carriers. We herein present a symptomatic FMF carrier with coexistence of these two genetic diseases. This report may provide a simple explanation for an age-old mystery of how FMF can occur with a single mutation.
References
Aslan D. Familial Mediterranean fever with a single MEFV mutation: can a deletion resulting in α-thalassemia be the cause? J Hum Genet 2011; 56: 169-71.
Higgs DR, Weatherall DJ. The alpha thalassaemias. Cell Mol Life Sci 2009; 66: 1154-62.
Harteveld CL, Higgs DR. Alpha-thalassaemia. Orphanet J Rare Dis 2010; 5: 13, doi: 10.1186/1750-1172-5-13.
Koné-Paut I, Hentgen V, Touitou I. Current data on familial Mediterranean fever. Joint Bone Spine 2011; 78: 111-4.
Medlej-Hashim M, Nehme N, Chouery E, Jalkh N, Megarbane A. 1 Novel MEFV transcripts in Familial Mediterranean fever patients and controls. BMC Med Genet 2010; 11: 87, doi: 10.1186/1471-2350-11-87.
Sasaki K, Tahara T, Mitani K. Presentation of familial Mediterranean fever in a heterozygous MEFV mutation triggered by immunosuppressive therapy for myelodysplastic syndrome. Int J Hematol 2009; 90: 91-3.
Steensma DP, Viprakasit V, Hendrick A, Goff DK, Leach J, Gibbons RJ, et al. Deletion of the alpha-globin gene cluster as a cause of acquired alpha-thalassemia in myelodysplastic syndrome. Blood 2004; 103: 1518-20.
Rugless MJ, Fisher CA, Old JM, Sloane-Stanley J, Ayyub H, Higgs DR, et al. A large deletion in the human alpha-globin cluster caused by a replication error is associated with an unexpectedly mild phenotype. Hum Mol Genet 2008; 17: 3084-93.
Notarnicola C, Boizet-Bonhoure B, de Santa Barbara P, Osta MA, Cattan D, Touitou I. Characterization of new mutations in the 5'-flanking region of the familial Mediterranean fever gene. Genes Immun 2009; 10: 273-9.
Kalyoncu U, Tufan A, Karadag O, Kisacik B, Akdogan A, Calguneri M. Rubinstein-Taybi syndrome and familial Mediterranean fever in a single patient: two distinct genetic diseases located on chromosome 16p13.3. J Natl Med Assoc 2006; 98: 1692-3.
Han J, Zeng R, Hu B. The prevalence of beta-thalassemia heterozygotes compound alpha-thalassemia in Guangdong district. Zhonghua Xue Ye Xue Za Zhi 2001; 22: 514-6.
Panigrahi I, Rafeeq PH, Choudhry VP, Saxena R. High frequency of deletional alpha-thalassemia in beta-thalassemia trait: implications for genetic counseling. Am J Hematol 2004; 76: 297-9.
Cai YL, Zheng YM, Tang MZ, Li J, Li SW. Molecular detection and haematological analysis of heterozygotes in beta-thalassemia combining deletional alpha-thalassemia. Zhongguo Shi Yan Xue Ye Xue Za Zhi 2007; 15: 195-7.
