Haemoglobinopathies in Greece: prevention programme over the past 35 years.

At present, prevention of thalassaemia and sickle cell disease is the only realistic approach to control the birth of new patients in countries having high numbers of carriers. This is fully justified because avoiding the birth of an ever increasing number of patients may allow a more effective use of the available resources in improving the management of the patients surviving today and alleviate the already overloaded public health system from the inevitable tremendous and ever increasing cost. Moreover, prenatal diagnosis may help couples at risk to have non-thalassaemic children. Greece is one of the countries where the mean frequency of carriers is approximately 7.5 per cent (population 11 million) and has set up a nationwide programme for carrier identification in the early seventies; this is provided through a dozen of specific Units attached to the major Blood Transfusion Services of the country, on a voluntary basis and free of charge. Spread of information through mass media, the schools, and other groups has greatly contributed in creating the necessary sensitization; obstetricians and antenatal Clinics are also instrumental to this effect. Prenatal diagnosis is offered centrally (Athens) and covers satisfactorily the estimated needs (500-600 annually); the total number has already exceeded 35,000. According to information obtained from the major paediatric hospitals all over the country, the number of thalassaemia major or SCD admitted for treatment over the last ten years has been around 15 yearly (instead of an estimate of 120-130).

Past, present & future scenario of thalassaemic care & control in India.

The first case of thalassaemia, described in a non-Mediterranean person, was from India. Subsequently, cases of thalassaemia were documented in all parts of India. Centres for care of thalassaemics were started in the mid-1970s in Mumbai and Delhi, and then in other cities. The parent's associations, with the help of International Thalassemia Federation, greatly helped in improving the care of thalassaemics. Obtaining blood for transfusion was difficult, but the Indian Red Cross Society and the parent's associations played a crucial role in arranging voluntary donations of blood. Chelation with deferoxamine was used sparingly due to the high cost. The Indian physicians conducted trials with deferiprone, and the drug was first approved and marketed in India. Deferasirox is also now being administered. Studies of physical and pubertal growth documented significant retardation, suggesting that generally patients receive inadequate chelation and transfusions. Bone marrow transplantation is available at a number of centres, and cord blood stem cell storage facilities have been established. Information about mutations in different parts of India is available, and ThalInd, an Indian database has been set up. There is a need to set up preimplantation genetic diagnosis and non-invasive prenatal diagnosis. It is argued that too much emphasis should not be placed on premarital screening. The focus should be on screening pregnant women to yield immediate results in reducing the burden of this disorder. Care of thalassaemia has been included in the 12th 5-year Plan of the Government of India. Many States now provide blood transfusions and chelation free of cost. Although inadequacies in care of thalassaemia remain, but the outlook is bright, and the stage is set for initiating a control programme in the high risk States.

Rastreamento de hemoglobinas variantes e talassemias com associação de métodos de diagnóstico / Tracking of variant hemoglobins and thalassemias by association of diagnosis methodologies

O diagnóstico neonatal de hemoglobinopatias permite a melhoria na qualidade de vida do doente com a implementação de medidas profiláticas, acompanhamento clínico e aconselhamento genético. Objetivou-se no presente estudo o diagnóstico das hemoglobinas variantes e talassemias em amostras de sangue de cordão umbilical de neonatos da região noroeste do estado de São Paulo por Cromatografia Líquida de Alta Performance (HPLC), associada a procedimentos eletroforéticos, bioquímicos e citológicos, visando adaptar a melhor metodologia de análise à freqüência dos defeitos de hemoglobina na população brasileira. Foram analisadas 3.048 amostras de janeiro de 2001 a dezembro de 2002, e 13,12 por cento apresentaram alterações de hemoglobinas, sendo 1,84 por cento com presença de Hb S; 0,6 por cento com Hb C; 0,65 por cento com resultados sugestivos de beta talassemia e 9,48 por cento sugestivos de alfa talassemia. Dentre as hemoglobinas anormais encontradas, 0,33 por cento das amostras apresentaram resultados discordantes nas metodologias aplicadas. A HPLC mostrou-se eficiente para a identificação de variantes de hemoglobinas e permitiu a análise de grande número de amostras em curto espaço de tempo e agilidade nas triagens. Entretanto, foi necessário associar outros métodos de análise para a caracterização das formas talassêmicas.

The neonatal diagnosis hemoglobinopathies improves the quality of life by prophylactic measures and genetic counseling. The diagnosis of variant hemoglobins and thalassemias was considered in the present study. Cord blood samples of newborn babies from the northwestern region of São Paulo state were analyzed by High Performance Liquid Chromatography (HPLC) associated with electrophoretic, biochemical and cytologic procedures aiming to adapt the best methodology to analyze the frequency of hemoglobin defects in the Brazilian population. Three thousand and forty-eight samples were analyzed from January 2001 to December 2002 with 13.12 percent presenting hemoglobin alterations; 1.84 percent had Hb S; 0.6 percent had Hb C; 0.65 percent were suggestive of thalassemia beta and 9.48 percent were suggestive of thalassemia alpha. Among the abnormal hemoglobins, 0.33 percent of the samples presented different results in the methodologies used. HPLC was efficient to identify variant hemoglobins and enable the analysis of several samples in a short period of time with agility in screenin. However, an association of other methods was necessary for the characterization of the thalassemic forms.

Assessment of level of awareness and utilization of treatment options in thalassemic children

To assess the level of awareness and utilization of treatment options in thalassemic children. Cross-sectional study. Thalassemia centre of Bahawal Victoria Hospital Bahawalpur over a period of 2 months from March 2006-April 2006. This study was performed on 90 diagnosed patients of thalassemia. All of these patients came for routine blood transfusion in the thalassemia unit of Bahawal Victoria Hospital Bahawalpur. The parents of the patients were interviewed regarding their level of awareness and utilization of treatment options of thalassemia. Data was analyzed with SSPS 10.0 computer program. There were 48 [53%] male patients and 42 [47%] female patients with male to female ratio of 1:1.4. The mean age for diagnosis and first blood transfusion was 6.5 months.. All patients were receiving blood transfusions with mean of 60 transfusions per patient. Fifty five [61%] of the parents had knowledge about the chelation therapy. Only 16 [17.5%] of the patients were receiving the oral chelation therapy. Fifty one [56%] parents knew about the bone marrow transplantation as a treatment of thalassemia. Seventy one [79%] parents knew about the prenatal diagnosis of thalassemia. The management of thalassemia major in a developing country poses a major challenge to the health services. Impetus on prevention and development of more centers for curative treatment should be stressed

Prevalence and preventive measures of N.W.F.P., Pakistan

65 cases of thalassaemia major were selected out of 300 cases of anaemia [21.66%] admitted to Paediatric Unit A in Women and Children Hospital, Abbottabad since June 1995, based on their family history, clinical data, laboratory investigations and X-ray analyses. Most of them were between 1-5 years of age. No difference was noted between the two sexes. Parental consanguinity was present in 49.23% of cases and non-consanguinity in 24.61%, whereas data was not available in 26.15%, of cases. All the patients had moderate to severe anaemia and failure to thrive as their presenting symptoms. Other predominant associated features were splenomegaly [90%], typical facies [60%], skull changes on X-rays [60%], hepatomegaly [45%], jaundice [10%] and repeated infections such as gastroenteritis, pneumonia, etc. Some of them, particularly older children having received multiple blood transfusions, presented with complications such as viral hepatitis, congestive cardiac failure [4.61%] and diabetic ketoacidosis [1.53%]. A variety of problems were encountered in diagnosis and management of these cases and are listed with suggested improvements in patient care