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This might have been the reason for the late onset of symptoms and mild clinical presentation in this case.
These mutations generally affect the stability of band 3; erythrocyte band 3 is reduced by 20%to30%0%, giving a mild clinical presentation.
Interestingly, all affected family members but patient No5109, had mild clinical presentation of the disease, retained C-peptide levels, and in all cases but one did not require insulin treatment (Table 1).
Mild clinical presentation of this variant in homozygous and combined heterozygous state with a β-thalassemic mutation and also with concomitant presence of α- and β-thalassemia mutations have been indicated [ 22].
It also provides evidence that the formation of heterodimers between B3 mutant proteins and wild-type protein can correct mistrafficking, explaining the mild clinical presentation in some individuals heterozygous with HS.
Mild clinical presentation of sickle cell anemia in southwestern Iran has been demonstrated with high level of Hb F and the elevation ratio of G γ : A γ chains in sickle cell anemia patients that was attributed to the presence of Xmn I polymorphic site associated with Arab-Indian haplotype [ 31, 32].
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Headache is one of the typical and more discomforting symptoms of the disease in adults [ 15] and its lower frequency in children certainly contributes to the milder clinical presentation in this age group.
The milder clinical presentation and the benign course of MSF allow us to utilize macrolides, which are often used to treat infections in children, that lack adverse effects and are effective in vitro against Rickettsia conorii [ 28- 30].
They also state that fetal ductus arteriosus constriction may be underestimated, particularly with a negative history of maternal drug exposure and mild postnatal clinical presentation, and they discuss our belief that a maternal polyphenol-rich diet may influence fetal ductal flow dynamics and be a risk factor for constriction or even closure.
Management includes early intensive support measures despite a relatively mild clinical picture at presentation.
In 2008, JJ Malemba and JM Mbuyi-Muamba reported, in a retrospective study, that RA was rare and mild in its clinical presentation at the University Hospital of Kinshasa (UHK) [ 7].
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