The need for early treatment of clubfeet in peripheral hospitals in sub-Saharan Africa: a survey of clubfoot management in Zambia

In the developing world, neglected clubfoot often results in a permanent and disabling deformity with subsequent social implications. Data from the four organizations that manage clubfoot in Zambia were collected using clinic and operating room registries and analyzed using Fisher exact test. In the central hospitals in the capital city 65% (204/313 feet) of clubfeet were suitable for treatment by the Ponseti method compared with only 23% (38/166 feet) in the peripheral hospitals (P < 0.001, two-tailed Fisher's exact test). In the central hospitals only 14% (42/313 feet) of clubfeet required extensive surgery for neglected clubfeet compared with 29% (49/116 feet) in peripheral hospitals (P < 0.015, two-tailed Fisher's exact test). Patients from outside the capital have a higher percentage of neglected clubfeet that are no longer suitable for conservative management and require extensive, complex and costly surgical treatment. By allowing earlier access to less invasive procedures the burden of disability may be reduced.     

A new β chain hemoglobin variant with increased oxygen affinity: Hb Santa Giusta Sardegna [β93(F9)Cys→Trp; HBB c.282T>G

During a screening program for the identification of β-thalassemia (β-thal) carriers in Sardinia, Italy, we identified two subjects with increased hemoglobin (Hb) levels and an abnormal Hb variant. The same variant was detected in a family member. DNA sequencing revealed a TGT > TGG mutation at codon 93 of the β-globin gene. Structural analysis demonstrated that the cystine residue at position 93 of the β chain was substituted by tryptophan. Since this amino acid substitution had not yet been reported, we designated this variant Hb Santa Giusta Sardegna for the place of birth of the subjects. This amino acid substitution occurs at the tyrosine pocket of the β chain as well as at the α1β2/α2β1 contact of the quaternary structure of the molecule. The presence of this Hb in the hemolysate causes an increased oxygen affinity, a slightly reduced Bohr effect and a reduced heme-heme interaction (n(50), Hill's constant) in comparison with those of Hb A.