Saudi Child with a Novel Mutation Causing Hereditary Spherocytosis, a Case Report


corrected in the text

Mohammed Adnan Zolaly

doi:10.5455/mjhs.2021.01.013

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Case Report

Majmaah J Heal Sci. 2021; 9(1): 133-142

doi: 10.5455/mjhs.2021.01.013

Saudi Child with a Novel Mutation Causing Hereditary Spherocytosis, a Case Report corrected in the text

Mohammed Adnan Zolaly.

Abstract
Spherocytosis is a descriptive terminology of red blood cells, which has a spherical shape rather than the normal biconcave shape of the normal red blood cells. Hereditary spherocytosis (HS) is an inherited blood disorder, which has large heterogenic presentation with both autosomal dominant inheritance and less frequently in an autosomal recessive mode of inheritance. Saudi Arabia is known to have high consanguineous marriage, which makes the population on a higher risk of developing different inherited disorders including HS. We are reporting a novel pathological mutation in a child with HS which caused him to have hemolytic anemia since the age of 2 years. To our best knowledge, this is the first time this new mutation is reported in the medical literatures.

Key words: Hereditary Spherocytosis, Mutation, Hemolytic Anemia, Consanguinity, Saudi Arabia.

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Pubmed Style

Mohammed Adnan Zolaly. Saudi Child with a Novel Mutation Causing Hereditary Spherocytosis, a Case Report corrected in the text. Majmaah J Heal Sci. 2021; 9(1): 133-142. doi:10.5455/mjhs.2021.01.013

Web Style

Mohammed Adnan Zolaly. Saudi Child with a Novel Mutation Causing Hereditary Spherocytosis, a Case Report corrected in the text. https://www.mjhs-mu.org/?mno=108256 [Access: September 12, 2024]. doi:10.5455/mjhs.2021.01.013

AMA (American Medical Association) Style

Mohammed Adnan Zolaly. Saudi Child with a Novel Mutation Causing Hereditary Spherocytosis, a Case Report corrected in the text. Majmaah J Heal Sci. 2021; 9(1): 133-142. doi:10.5455/mjhs.2021.01.013

Vancouver/ICMJE Style

Mohammed Adnan Zolaly. Saudi Child with a Novel Mutation Causing Hereditary Spherocytosis, a Case Report corrected in the text. Majmaah J Heal Sci. (2021), [cited September 12, 2024]; 9(1): 133-142. doi:10.5455/mjhs.2021.01.013

Harvard Style

Mohammed Adnan Zolaly (2021) Saudi Child with a Novel Mutation Causing Hereditary Spherocytosis, a Case Report corrected in the text. Majmaah J Heal Sci, 9 (1), 133-142. doi:10.5455/mjhs.2021.01.013

Turabian Style

Mohammed Adnan Zolaly. 2021. Saudi Child with a Novel Mutation Causing Hereditary Spherocytosis, a Case Report corrected in the text. Majmaah Journal of Health Sciences, 9 (1), 133-142. doi:10.5455/mjhs.2021.01.013

Chicago Style

Mohammed Adnan Zolaly. "Saudi Child with a Novel Mutation Causing Hereditary Spherocytosis, a Case Report corrected in the text." Majmaah Journal of Health Sciences 9 (2021), 133-142. doi:10.5455/mjhs.2021.01.013

MLA (The Modern Language Association) Style

Mohammed Adnan Zolaly. "Saudi Child with a Novel Mutation Causing Hereditary Spherocytosis, a Case Report corrected in the text." Majmaah Journal of Health Sciences 9.1 (2021), 133-142. Print. doi:10.5455/mjhs.2021.01.013

APA (American Psychological Association) Style

Mohammed Adnan Zolaly (2021) Saudi Child with a Novel Mutation Causing Hereditary Spherocytosis, a Case Report corrected in the text. Majmaah Journal of Health Sciences, 9 (1), 133-142. doi:10.5455/mjhs.2021.01.013

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