A Probable Case of Thalassemia Intermedia from Tell Masaikh, Syria

Abstract

In this report, we describe the first potential case of hereditary anaemia from the Middle Euphrates valley (Syria). The skeletal changes identified in the studied specimen were consistent with marrow hyperplasia, and the distribution, especially the involvement of the facial bones, the sternum and ribs, was suggestive of thalassemia. The identified haplotype indicates M4b1 haplogroup suggesting that the analysed specimen was either a newcomer from Asia or a descendent of Asian origin in the maternal line, most likely from the Indian Peninsula where characteristic mutations of mtDNA can be identified today. The genetic data might explain a case of thalassemia in the Syrian lower Euphrates valley. Copyright © 2015 John Wiley & Sons, Ltd.

A new investigative strategy to diagnose β-thalassemia syndrome in past human populations

“…We started selecting 10 skeletal indicators of thalassemia syndrome (Table 2), as suggested in the relevant literature (Hershkovitz and Edelson 1991;Tayles 1996;Lagia et al 2007;Lewis 2010;Fornaciari 2015;Rohnbogner 2016;Thomas 2016;Tomczyk et al 2016). We classified these indicators as "non-specific", "indicative/non-diagnostic", and "diagnostic", also taking in account relevant clinical case studies (Aksoy et al 1973;Moseley 1974;Martuzzi Veronesi and Gualdi-Russo1976;Lehmann 1982;Lawson et al 1983;Kalef-Ezra et al 1995;Wonke 1998;Dresner et al 2000;De Roeck et al 2003;Voskaridou and Terpos 2004;Azam and Bhatti 2006;Tyler et al 2006;Lewis 2010;Galanello and Origa 2010;Baggieri and Mallegni 2011;Haidar et al 2010Haidar et al , 2012Hattab 2012;Perisano et al 2012;Jha and Jha 2014;Wong et al 2014;Wong et al 2016;Rivera and Mirazón Lahr 2017;Risoluti et al 2018).…”

“…One of the best indicators for the diagnosis of β-thalassemia syndrome is the hair-on-end appearance. This rare condition is referred to as the result of bone marrow proliferation with periosteum detachment and expansion of the diploë (Tomczyk et al 2016;Weatherall and Clegg 2001). Hair-onend is well detectable by radiological inspection and appears as vertical striations extending behind the outer table.…”

“…On the other hand, adolescents and adult individuals with positive scores of Eva-BeTa would be representative of thalassemia intermedia phenotypes. Among the published individuals re-analyzed with The value 0 indicates that the case is not evaluable (Tomczyk et al 2016), which represent ideal candidates for a genetic diagnosis of β-thalassemia.…”

“…As further criteria for selection, we included only papers in English, which had undergone a peer review process. As a result, 8 publications (Hershkovitz and Edelson 1991;Tayles 1996;Lagia et al 2007;Lewis 2010;Fornaciari 2015;Rohnbogner 2016;Thomas 2016;Tomczyk et al 2016) were used to define the characters to be included in the evaluation form and for its subsequent applications. This stringent approach was essential to carefully identify the traits that are most frequently considered as skeletal markers of thalassemia.…”

Thalassemia major in a 49‐year‐old Thai female: Gross and X‐ray examination of dry bone

“…Thalassemia has been well described in Mediterranean regional or diasporic contexts in the paleopathological literature Lewis, 2012;Rohnbogner, 2016;Tomczyk et al, 2016). In Mediterranean contexts, thalassemia has been tied to an evolutionary adaptive response to Plasmodium falciparum malaria following the transition to agriculture in the region (Angel, 1978;.…”