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Vitamin B12 plays a role in the proper formation of red blood cells, DNA synthesis and the maintenance of the nervous system

The diagnostic process typically involves: Clinical history taking, focusing on symptoms (fatigue, neurological changes, dietary habits) Physical examination for signs of anaemia or neurological impairment Blood tests including full blood count, serum B12, and often folate levels Additional investigations such as intrinsic factor antibodies or parietal cell antibodies if pernicious anaemia is suspected For borderline results, additional tests like holotranscobalamin (active B12) may be considered NICE guidance recommends that treatment should commence based on clinical presentation if neurological symptoms are present, without waiting for laboratory confirmation, as delays can result in irreversible nerve damage

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The strongest real evidence that genotype and B12 form interact comes not from common SNPs but from rare, single-gene disorders of cobalamin metabolism