Assessment of Splenic Function in Familial Asplenia

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Abstract
A woman came to the pediatric infectious-disease clinic, requesting that we evaluate her two-month-old daughter for asplenia. An older daughter had been well until she was two years of age, at which time sepsis and disseminated intravascular coagulation developed, resulting in the loss of her fingers, left leg, and right foot. During her convalescence, a diagnosis of asplenia was made on the basis of an abnormal finding on technetium-99m scanning. There was no family history of asplenia, and the parents were not related. The family was counseled that congenital asplenia could be familial.1 In mice, splenogenesis is believed to be under the control of an orphan homeobox gene designated HOX11, and mutations of this gene, if homozygous, could be responsible for isolated congenital asplenia not associated with heterotaxia and the cardiac abnormalities of Ivemark's syndrome.2,3

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