The changing epidemiology of the ageing thalassaemia populations: A position statement of the Thalassaemia International Federation.

Therapeutic advances in ß-thalassaemia have gradually lead to a significant improvement in prognosis over the past few decades. As a result, patients living in areas where disease-specific programmes offering access to modern therapy are in place experience a new era of prolonged survival that tends to reach that of the normal population. This ageing thalassaemia population, however, faces a new spectrum of comorbidities resulting from increasing age that may jeopardise the advances in prognosis provided by current therapy and thus poses new challenges in diagnosis, monitoring and treatment. In this position paper of the Thalassaemia International Federation, we review the changing epidemiology and clinical spectrum of patients with ß-thalassaemia and propose actions to be undertaken in order to address the emerging spectrum of comorbidities resulting from ageing.

Prevalence, Incidence, Trend, and Complications of Thalassemia in Iraq.

Globally, thalassemia is the most common hereditary hemoglobinopathy, and occurs in 4.4/10,000 live births. In the developing world, the majority of patients die before the age of 20 years. In Iraq, there is little data on the epidemiology and burden of thalassemia. The objectives of this study were to determine the prevalence, incidence, trend, and complications of thalassemia patients in Iraq. All thalassemia patients registered in the accessible 16 (of the 19) thalassemia centers in Iraq until December 31 2015, were included. Data were acquired from patients' files and the centers' registries. The total number of registered thalassemia patients was 11,165 representing 66.3% of all registered hereditary anemias in these centers. The prevalence of thalassemia had increased from 33.5/100,000 in 2010 to 37.1/100,000 in 2015, while the incidence rate had decreased from 72.4/100,000 live births to 34.6/100,000 live births between 2010 and 2015. ß-Thalassemia major (ß-TM) represented 73.9% of all types of thalassemia. About 66.0% of patients were under 15 years old; 78.8% were offspring of parents who were related, and 55.9% had at least one complication. Respectively, 13.5 and 0.4% of thalassemia patients were infected with hepatitis C virus (HCV) and hepatitis B virus (HBV) at some point in their lives. No patients were infected with the human immune deficiency virus (HIV). In conclusion, the prevalence of thalassemia in Iraq is slightly increasing in spite of decreasing incidence. Screening for carriers, and intensified premarital screening and counseling programs, coupled with strong legislation can help in further decreasing incidence rate.

Differential diagnosis of a probable case of non-adult thalassaemia from 4th century AD Romano-British Colchester, UK.

Our current understanding of immigration and diasporic disease in Roman Britain has been greatly enhanced by the recent identification of thalassaemia in the non-adult skeletal record. The wide phenotypic variation in the clinical expression of ß-thalassaemia, however, means that additional cases may go unrecognised. A probable diagnosis for ß-thalassaemia intermedia or a mild form of major in a 1.0-1.5year old skeleton from Butt Road, Colchester, dating to the 4th century AD is discussed here. The assessment was undertaken using macroscopic and radiographic analysis. Several conditions were apparent, including trauma and probable ß-thalassaemia and active vitamin D deficiency. Diagnosis proved difficult due to the challenges that non-adult thalassaemia poses for identification in the skeletal record, as in the absence of the cranium only 'rib-within-a-rib' is currently considered as pathognomonic of the condition. This case demonstrates the variations in expression of this type of genetic anaemia and adds emphasis to a more widespread presence of this important condition in Roman Britain.

Epidemiology of hemoglobinopathies and thalassemias in individuals referred to the haematology research centre, Shiraz University of Medical Sciences, Shiraz, Iran from 2006 to 2011.

Hemoglobinopathies and thalassemias are the most frequent genetic hereditary disorders with an increasing global health burden, especially in low- and middle-income countries. We aimed to determine the epidemiologic pattern of hemoglobinopathies and thalassemias in individuals referred to the Haematology Research Centre, Shiraz University of Medical Sciences, Shiraz, Iran, which is the most important referral center in Southern Iran during 2006 to 2011. The most frequent abnormality was ß-thalassemia (ß-thal) minor (24.0%), followed by α-thalassemia (α-thal) trait (10.0%), hemoglobin (Hb) S trait (4.0%) and Hb D-Punjab trait (4.0%). Because this center is a referral center, we detected a higher prevalence compared to the normal population; however, these data could help policymakers and health service providers to better programming for prevention of births affected with Hb disorders.

Critical appraisal of growth retardation and pubertal disturbances in thalassemia.

Growth and pubertal disturbances are the commonest endocrinopathies in homozygous thalassemia, accounting for significant morbidity in 70-80% children and adolescents globally. This review focuses on the pathophysiology of the endocrinopathy from a historical perspective and altered natural history induced by better care due to transfusion and chelation therapy. We have also discussed clinical features, diagnosis, and management strategies of growth retardation, sexual infantilism, pubertal aberrations, and scope of growth hormone, sex steroids, and other endocrine therapies. The article also emphasizes current and future strategies for screening, monitoring of growth and pubertal disturbances, and early intervention for the restoration of fertility potential and bone mass in the affected individuals.

Researches on thalassemia and malaria in Italy and the origins of the "Haldane hypothesis".

This paper aims to shed light on Italian contribution to the origins of malaria hypothesis, also known as Haldane hypothesis. The first studies on the association between hemoglobinopathies and malaria, in fact, were done in Italy since the end of the 1920s. These studies tried to explain the correlation between malaria and thalassemia observed by clinicians in various Italian regions. Later, since the beginning of the 1940s, this singular correlation was documented by thorough and wide-ranging epidemiological researches that revealed a strong geographic correspondence between the frequency of the thalassemic features and endemic malaria in Italy. These researches raised clearly the question of maintaining the frequency of a gene that, at the time, doomed homozygotes to death within the first two years of life. In 1948, Silvestroni, Bianco and Montalenti started investigating the causes of the persistence of the thalassemic foci in Italy. In 1949 J.B.S. Haldane finally hypothised for the first time an evolutionary advantage of thalassemic condition due to the concomitant presence of malarial infection. Since 1948, Montalenti and Haldane had various occasions to discuss on this topic. I try to demonstrate the role of Silvestroni, Bianco and Montalenti's research and data on the formation of Haldane hyphothesis.

[The Bianco and Silvestroni archive]. / L'archivio di ida Bianco ed ezio Silvestroni.

The Bianco and Silvestroni archive contains documents referring to the scientific and medico-social activity of the two researchers. Documents illustrate the aims and methods of campaigns directed to the control of thalassemia in Italy, obtained through the creation of a specific institution and the involvement of schools and families. A second group of documents refers to the scientific activity of the two scientists in the field of hematology and genetics.