A national registry of haemoglobinopathies in Greece: deducted demographics, trends in mortality and affected births.

Haemoglobinopathies are the most common hereditary disorders in Greece. Although there is a successful national prevention program, established 35 years ago, there is lack of an official registry and collection of epidemiological data for haemoglobinopathies. This paper reports the results of the first National Registry for Haemoglobinopathies in Greece (NRHG), recently organized by the Greek Society of Haematology. NRHG records all patients affected by thalassaemia major (TM), thalassaemia intermedia (TI), "H" Haemoglobinopathy (HH) and sickle cell disease (SCD). Moreover, data about the annual rate of new affected births along with deaths, between 2000 and 2010, are reported. A total of 4,506 patients are registered all over the country while the number of affected newborns was significantly decreased during the last 3 years. Main causes for still having affected births are: (1) lack of medical care due to financial reasons or low educational level; (2) unawareness of time limitations for prenatal diagnosis (PD); due either to obstetricians' malpractice or to delayed demand of medical care of couples at risk; and (3) religious, social or bioethical reasons. Cardiac and liver disorders consist main causes for deaths while life expectancy of patients lengthened after 2005 (p < 0.01). The NRHG of patients affected by haemoglobinopathies in Greece provides useful data about the haemoglobinopathies in the Greek population and confirms the efficacy of the National Thalassaemia Prevention Program on impressively decreasing the incidence of TM and sickle cell syndromes.

Practical diagnosis of red cell disorders in southern Spain.

BACKGROUND: Hereditary red cell disorders are associated with a protective effect against malaria, which results in an increased prevalence in malaria-endemic areas. Migratory flows from these areas are resulting in a marked increase in such abnormalities in Southern Spain. METHODS: All hemoglobin disorders diagnosed between 1997 and 2010 have been recorded. Since 2008, we have performed systematic screening for hemoglobinopathies on African patients. A high-pressure liquid chromatography system was used as screening method for structural hemoglobinopathies and for separation of hemoglobin (Hb) F and A(2). RESULTS: We detected 666 cases in patients of foreign origin and 308 in native Spanish patients. Thalassemias (thal) are the most frequent disorders amongst the local population: ß-thal minor, 57.1% (176/308); α-thal, 18.2% (56/308), and δß-thal, 7.8% (24/308). In ethnic minorities, there is a huge variety of hemoglobinopathies: heterozygous Hb S, 45% (300/666); heterozygous Hb C, 15% (100/666); ß-thal minor, 13.7% (91/666); α-thal, 10.2% (68/666); Hb SS in 14 patients, and Hb CC in 9 patients. Of the native patients, 14 were found to have Hb AS and 9 Hb AC. CONCLUSION: Given the modern migratory flows, greater knowledge of these disorders is needed by all medical staff, and new practical and cost/time-effective diagnostic approaches have to be devised.

The challenge of haemoglobinopathies in resource-poor countries.

The haemoglobinopathies, inherited disorders of the structure or synthesis of haemoglobin, are the commonest monogenic diseases. Approximately 80% of the annual births of babies with these conditions occur in low-or middle-income countries, many of which have extremely limited facilities for their control and management. Given that the population size of many of them is growing and, as social and public health facilities improve, increasing numbers of these babies will survive to present for diagnosis and treatment. Hence, the haemoglobinopathies will constitute an increasing global health burden. Hitherto, they have been largely ignored by governments of high-frequency countries and by the international health agencies. However, a start has been made in developing control programmes in some low-income countries and there is already considerable evidence that much can be done to improve the situation by the development of partnerships between groups in richer countries and centres in low-income countries. The natural extension of this approach is the further development of partnerships between countries where expertise in this field has been developed and adjacent countries where no such expertise exists. It is vital that the haematology community of the richer countries becomes involved in programmes of this type while, at the same time, putting pressure on their governments and on international health agencies for support for this work.

A cost utility analysis of the right method for screening hemoglobin E among Thai pregnant women.

BACKGROUND: Inherited hemoglobin disorders are an important problem in many developing countries including Thailand. Of the several inherited hemoglobin disorders, hemoglobin E (HbE) (beta 26, GAG-AAG, Glu-Lys) is the most common hemoglobinopathy in Thailand. Presently, screening to identify carriers of hemoglobin disorders among pregnant subjects is an interesting topic in antenatal care in Thailand. Of late, many trials have been conducted to identify the right screening methods for the detection of hemoglobin disorders among Thai pregnant women. The common screening methods include red blood cell (RBC) index determination, application of mathematical model and hemoglobin electrophoresis. METHODS: Here, the author presents an evaluation of the cost utility of those tests in medical practice in Thailand. The cost/utility of hemoglobin electrophoresis is the highest followed by RBC index determination, application of mathematical model and DCIP test. RESULTS: Here, it can be shown that the cost per accurate diagnosis for DCIP is the least expensive. CONCLUSION: It is interesting to note that DCIP also posed high sensitivity in the screening for HbE disorder. Therefore, this test is the best method for screening the population, particularly pregnant women, to identify carriers of hemoglobin disorders. It should be recommended as part of antenatal care in Thailand as well as its neighbouring countries which have a similar high rate of HbE disorder.

Automated computer result reporting for haemoglobinopathy screening.

The anticipated introduction of universal antenatal screening can be expected to increase the workload of haemoglobinopathy laboratories throughout the country. We have devised a rule-based system to process those results that does not require skilled interpretation, thereby freeing staff time for more specialized work. The system relies on a calculated test to create a total haemoglobin peak value, which incorporates the values for HbA, HbA2 and HbF, the MCV and MCH from the full blood count. Each parameter has a series of defined ranges which, when subjected to an interpretation process within the laboratory computer system, generates an automated result text for the sample. During a 6-month verification period, the automated result interpretation system in conjunction with laboratory information systems (LIS) validation reduced the number of samples requiring manual review by 60%. The system was found to be 100% sensitive and 61.8% specific. We feel that the current specificity is acceptable in order to maintain a safe system. The ability to concentrate on potentially abnormal results will allow laboratories and health care workers more time to develop appropriate and timely frameworks to deal with abnormal results.