Sickle cell disease (SCD) remains a persistent problem due to subpar treatment options and lack of access to healthcare and diagnostics. India has the third highest number of SCD births, with approximately 15,000-25,000 babies born with SCD in tribal communities each year [67575969]. The Government of India launched the National Sickle Cell Anaemia Elimination Mission in 2023 to eliminate SCD by 2047, but treatment and care for SCD are still inadequate and inaccessible [67575969]. The drug hydroxyurea, which lessens the severity of pain and improves survival rates, is largely unavailable in many states. Blood transfusion and pain medications are also scarce [67575969]. Bone marrow transplantation (BMT), another cure for SCD, is out of reach for most patients due to the difficulty in finding matched donors, high treatment costs, and long waiting times [67575969]. The gene-editing technology CRISPR has shown promise in treating SCD, but its high cost keeps it out of reach for most affected individuals [67575969]. In India, the use of CRISPR for medical applications raises ethical and legal concerns [67575969]. The National Guidelines for Stem Cell Research 2017 prohibit the commercialization of stem cell therapies, and the Guidelines for Gene Therapy Product Development and Clinical Trials 2019 provide guidelines for the development and clinical trials of gene therapies for inherited genetic disorders [67575969]. However, there is a need for stronger health inequity and discrimination perspectives in these guidelines [67575969]. The development of therapeutic technologies should be preceded by efforts to make basic treatment available to those in need [67575969]. Deliberations on regulatory frameworks should involve civil society and patients' advocacy groups to ensure ethically responsible research [67575969]. The focus should be on integrating issues of access to diagnostics, drugs, health information, and community support to improve the overall healthcare access framework in India [67575969].
A research team led by Dr Albert Sin Chun-fung from the Department of Pathology, School of Clinical Medicine, LKS Faculty of Medicine of the University of Hong Kong (HKUMed) has achieved a significant breakthrough in characterising territory-wide cohorts of acquired haemophilia A (AHA) patients in Hong Kong and identifying their prognostic factors [a171784d]. The analysis revealed that the annual incidence of AHA cases in Hong Kong is twice as high as that observed in Caucasian populations [a171784d]. The study also found that there is a higher mortality rate in the older demographic in local AHA patients, mainly because of severe infections resulting from immunosuppressive therapy [a171784d]. The research team analysed data from the medical records of 165 AHA patients diagnosed between 2012 and 2021 in local public hospitals [a171784d]. The incidence of AHA among the local population is estimated to be 2.4 cases per million per year, more than double the rate reported for Caucasian populations [a171784d]. The median age of diagnosis is 80, which is older than the patient populations reported in previous studies [a171784d]. The mortality rate is 55.2% compared to 25% in Caucasian cohorts. About half (49.5%) of these deaths were caused by severe infections due to immunosuppressive therapy required to manage the condition [a171784d]. The study highlights the urgent need for awareness and education about AHA among the general public and medical practitioners to ensure timely recognition and appropriate treatment of this condition in the local Chinese population [a171784d].
Freya Maclay, a baby born in Hong Kong in August 2022, was diagnosed with Tay-Sachs disease, a rare and incurable condition in which toxins build up in the brain and spinal cord. The disease causes seizures, vision and hearing loss, paralysis, and eventually death [381763e4]. Tay-Sachs disease is rare, affecting about one in 360,000 babies, and is caused by inheriting a flaw in the Hexa gene from both parents [381763e4]. Symptoms usually appear at around six months, and the life expectancy of an infant with Tay-Sachs is between two and four years [381763e4]. Freya's case is the first in Hong Kong. The Maclays have received overwhelming support from the community, including a GoFundMe campaign that has raised A$271,910 (US$179,000) of its A$300,000 goal. They are determined to raise awareness and support for those battling Tay-Sachs disease [381763e4].