title: Favism, the commonest form of severe hemolytic anemia in Palestinian children, varies in severity with three different variants of G6PD deficiency within the same community.
abstract: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common genetic abnormality known to predispose to acute hemolytic anemia (AHA), which can be triggered by certain drugs or infection. However, the commonest trigger is fava beans (Vicia faba) ingestion, causing AHA (favism), which may be life-threatening especially in children. G6PD deficiency is genetically highly heterogeneous, as nearly 200 different mutations have been observed. We have investigated the hematological features of acute favism in the Palestinian Gaza community that is characterized by the polymorphic coexistence of three different G6PD deficiency genes (G6PD A-, G6PD Cairo, G6PD Med). We have found by comparison to the general population (485 adults and 466 newborns) that children with favism, in terms of relative frequency, G6PD A- was under-represented, whereas G6PD Med was over-represented. We also found that the severity of anemia was significantly greater with G6PD Med and G6PD Cairo than with G6PD A-; and with G6PD Cairo, compared to the other two variants, there was greater hyperbilirubinemia, as well as persistence of mild anemia and reticulocytosis for as long as 4months after recovery from favism. This is the first report determining a differential impact of different G6PD mutations on the clinical features of favism in the same population and the same environment.
authors: Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA; Division of Hematology, Department of Internal Medicine, School of Medicine, University of Utah, Salt Lake City, UT, USA. Electronic address: scott.reading@aruplab.com.
authors: N Scott
authors: NS
authors: Reading
authors: Biology Department, Al Azhar University-Gaza, Palestine; University of Utah School of Medicine, Salt Lake City, UT, USA. Electronic address: sirdah@alazhar.edu.ps.
authors: Mahmoud M
authors: MM
authors: Sirdah
authors: Department of Laboratory Medical Sciences, Islamic University-Gaza, Palestine. Electronic address: mohshubar@gmail.com.
authors: Mohammad E
authors: ME
authors: Shubair
authors: Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA. Electronic address: benjamin.eric.nelson@gmail.com.
authors: Benjamin E
authors: BE
authors: Nelson
authors: Al Nasser Pediatric Hospital, Palestinian Ministry of Health, Palestine. Electronic address: dr.kahlout67@hotmail.com.
authors: Mustafa S
authors: MS
authors: Al-Kahlout
authors: Al Nasser Pediatric Hospital, Palestinian Ministry of Health, Palestine. Electronic address: jamal.altayeb@hotmail.com.
authors: Jamal M
authors: JM
authors: Al-Tayeb
authors: Al Nasser Pediatric Hospital, Palestinian Ministry of Health, Palestine. Electronic address: lina.aboud2001@hotmail.com.
authors: Lina N
authors: LN
authors: Aboud
authors: Maternity Hospital, Al Shifa Medical Compound, Palestinian Ministry of Health, Palestine. Electronic address: dr.maysaa82@gmail.com.
authors: Maysaa Abu
authors: MA
authors: Shaban
authors: Department of Hematology, Muhimbili University of Health and Allied Sciences, Dar-es-Salaam, Tanzania. Electronic address: lluzzatto@blood.ac.tz.
authors: Lucio
authors: L
authors: Luzzatto
authors: Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA; Division of Hematology, Department of Internal Medicine, School of Medicine, University of Utah, Salt Lake City, UT, USA. Electronic address: josef.prchal@hsc.utah.edu.
authors: Josef T
authors: JT
authors: Prchal
mesh_terms: D000743:Anemia, Hemolytic / Q000235:genetics / Q000473:pathology; D018912:Arabs; D001800:Blood Specimen Collection; D002648:Child; D002675:Child, Preschool; D005236:Favism / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D017422:Sequence Analysis, DNA
chemical_list: D005954:Glucosephosphate Dehydrogenase; C482910:glucose-6-phosphate dehydrogenase A-
keywords: Favism; G6PD Cairo; G6PD deficiency; Gaza; Palestine