About Chediak-Higashi, Hemoglobin Lansing, and Hemoglobin Jabalpur

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About Chediak-Higashi, Hemoglobin Lansing, and Hemoglobin Jabalpur

To the Editor, I would like to express my concerns about some of the published letters in a recent issue of this journal. About “A Rare Cause of Recurrent Oral Lesions: Chediak-Higashi Syndrome” by Karabel et al. [1], I feel that unbelievably low neutrophil counts (157/L ?) and/or coinciding presence of another hereditary disorder such as acatalasemia [2] should also be looked for as a cause of...

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Chediak-Higashi Syndrome

Impaired vision Photophobia Albinism of the OCA2 type, giving a lighter complexion than unaffected family members [6] Silvery sheen to hair which may be fair in colour Frequent infections (skin, mucous membranes, respiratory) Epilepsy Mental retardation Enlarged liver and spleen Jaundice Ataxia causing incoordination and a typical ataxic gait Tremor Epilepsy Peripheral neuropathy causing motor ...

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Chediak-Higashi Syndrome

Impaired vision Photophobia Albinism of the OCA2 type, giving a lighter complexion than unaffected family members [6] Silvery sheen to hair which may be fair in colour Frequent infections (skin, mucous membranes, respiratory) Epilepsy Mental retardation Enlarged liver and spleen Jaundice Ataxia causing incoordination and a typical ataxic gait Tremor Epilepsy Peripheral neuropathy causing motor ...

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Chediak-Higashi Syndrome

Chediak-Higashi syndrome which appears to be a lysosomal disease (Douglas and Fudenberg, 1969; White, 1966) is characterized by partial albinism, photophobia, recurrent infections, hepatosplenomegaly, and a distinctive leucocyte anomaly (Chediak, 1952; Higashi, 1954). Available genetic and fine structural studies suggest that the condition is inherited as an autosomal recessive trait (Sadan et ...

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Pseudo Chediak-Higashi Anomaly

A 9-year-old girl was admitted to hospital with a 1-month history of fever, weight loss, epistaxis, and abdominal pain. The girl’s parents were non-consanguineous. Her medical history was unremarkable. Upon admission she weighed 27 kg (25th-50th percentile), was 131 cm tall (50th percentile), and was pale. Physical examination showed multiple cervical and inguinal microlymphadenopathies, withou...

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ژورنال

عنوان ژورنال: Turkish Journal of Hematology

سال: 2015

ISSN: 1300-7777

DOI: 10.4274/tjh.2014.0393