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The frequency of beta-thalassaemia in India ranges from 3.5% to 15% in the general population and of the 100,000 children born with thalassaemia major in the world, 10,000 are in India alone. Affected children do not die immediately, but treatment by regular transfusion is costly and leads to iron overload and death. Therefore, health services in lower-economic countries can sustain patients only if the numbers can be limited. Detecting carrier couples by simple blood test can prevent thalassaemia and at-risk couples can be identified and informed of their genetic risk before having children. A prevention programme including population screening, counselling, and prenatal diagnosis will markedly reduce the birth prevalence of affected individuals. Hemoglobin A2 (HbA2) measurement in human hemolysates has great significance, since its level can indicate beta-thalassaemia carrier status in otherwise healthy individuals. We have developed a rapid, simple, and inexpensive enzyme linked immunosorbent assay (ELISA) for the quantitation of HbA2, which can be used in carrier screening programmes in developing countries like India. In a limited trial for beta-thalassaemia carrier screening, the results obtained with ELISAs were compared with those obtained with the microcolumn chromatography method (r = 0.89).

Purpose of reviewThe global prevalence of asthma continues to increase; however, asthma remains under-diagnosed and under-treated. This results in a significant burden on the healthcare system and preventable patient morbidity and mortality. Over-diagnosis of asthma based on clinical history alone also complicates patient management. This heightens the importance of a prompt and accurate asthma diagnosis. Therefore, a review of the literature was performed regarding both objective diagnostic testing for asthma and using patient-reported outcome measures. Recent findingsThe cornerstone of asthma diagnosis remains spirometry with testing for bronchodilator reversibility testing for pediatric and adult populations. This test may need to be repeated at multiple time points due to its low sensitivity. Peak flow measurement, fractional exhaled nitric oxide testing, and allergy testing are useful adjuncts to the diagnosis and phenotyping of asthma. Bronchoprovocation testing is reserved for people with high clinical suspicion for asthma, but negative spirometry. Novel noninvasive testing modalities may play a diagnostic role in the future. The advent of remote digital health monitoring technology has resulted in revisiting patient-reported outcome measures for the diagnosis and monitoring of asthma. SummaryOverall, improved diagnostic tools for asthma are crucial for earlier recognition and treatment of the disease and improved patient care outcomes worldwide.

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