ALAS2的缺失能导致红细胞发育的停滞，ALAS2基因的遗传性突变能引起X-连锁的成高铁红细胞贫血（XLSA）。

The absence of ALAS2 leads to maturation arrest of primitive erythroid cells. Heritable mutations of ALAS2 gene are responsible for the human X-linked sideroblastic anemia (XLSA).

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例如，因为突变的基因可以提高铁的吸收效率，所以遗传性血色素沉着病突变可以保护带菌者不缺铁。

For example, the hereditary hemochromatosis mutation protects carriers from iron-deficiency because the mutated gene allows increased efficiency of iron absorption.

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血红蛋白疾患是遗传性血液病，由通常健康的父母所遗传的血红蛋白突变基因所导致。

Haemoglobin disorders are genetic blood diseases due to inheritance of mutant haemoglobin genes from both, generally healthy, parents.

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