E-ISSN 1658-8223 | ISSN 1658-645X
 

Case Report 


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: December 04, 2023]. 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 December 04, 2023]; 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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