Disease-modifying influences of coexistent G6PD-deficiency, Gilbert syndrome and deletional alpha thalassemia in hereditary spherocytosis: A report of three cases

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• 作者：Manu Jamwal^a ; ^{manujamwal25@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Anu Aggarwal^a ; ^{aggarwalanu2011@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Verinder Kumar^a ; ^{verinderkumar@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Prashant Sharma^a ; ^{prashant.sh@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Man Updesh Singh Sachdeva^a ; ^{drmanupdeshpgi@yahoo.co.in" class="auth_mail" title="E-mail the corresponding author} ; Deepak Bansal^b ; ^{deepakbansaldr@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Pankaj Malhotra^c ; ^{malhotrapankaj@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Reena Das^a ; ^{das.reena@pgimer.edu.in" class="auth_mail" title="E-mail the corresponding author} ; ^{reenadaspgi@hotmail.com" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Hereditary spherocytosis ; Glucose-6-phosphate dehydrogenase deficiency ; Gilbert syndrome ; Alpha gene deletion
• 刊名：Clinica Chimica Acta
• 出版年：2016
• 出版时间：1 July 2016
• 年：2016
• 卷：458
• 期：Complete
• 页码：51-54
• 全文大小：546 K

文摘

Hereditary spherocytosis (HS) is a common inherited hemolytic anemia characterized by heterogeneous clinical presentations with variable degrees of anemia, jaundice, splenomegaly and gallstones. Although the underlying genetic defects in red cell membrane proteins may explain many phenotypic variations, a proportion of variability may be due to other co-inherited factors like enzymopathies, thalassemias and Gilbert syndrome. Associations of HS with glucose-6-phosphate dehydrogenase (G6PD) deficiency and Gilbert syndrome in isolation have been reported previously.

Methods

We describe 3 adult cases of HS with concomitant Gilbert syndrome and G6PD-Mediterranean mutations (2 hemizygous males, aged 15 and 35 y and 1 heterozygous 25-y female).

Results

Two patients required multiple transfusions that required splenectomy for management. One patient (15 y male) also carried the single gene alpha 4.2 deletion and was less symptomatic.

Conclusions

These cases illustrate the importance of clinico-pathological correlation and judicious extended testing for various contributing factors that may modify the clinical course of HS patients. G6PD deficiency is also a common enzymopathy in India and can contribute to the phenotypic heterogeneity. Its recognition is important for advising avoidance of oxidizing drug exposure.