Hb Adana [HBA2: c179G>A ( or HBA1); p. Gly60Asp] is a rare hemoglobin ( Hb) variant due to a mutation at codon 59 of the alpha 2- or alpha 1-globin gene resulting in a glycine to aspartic acid substitution. Two siblings with a unique coinheritance of Hb Adana and Hb Constant Spring (Hb CS, alpha 142, Term -> Gln, TAA>CAA; HBA2: c.427 T>C) (alpha(codon) (59)alpha/alpha(CS)alpha), were compared phenotypically with another two siblings carrying the Hb Adana mutation and a 3.7 kb deletion (alpha(codon) (59)alpha/-alpha(3.7)). Although they all had alpha-thalassemia intermedia ( alpha-TI), the former were clinically more severe than the latter. The first pair of siblings presented at a much younger age than the second pair and showed lower Hb levels and significant extramedullay hemopoiesis. Another case of a hydropic fetus as a result of Hb H/Hb Adana is also described. Their clinical phenotypes and hematological parameters are all presented for comparison.

Haemoglobin (Hb) Lepore is a variant Hb consisting of two alpha-globin and two delta beta-globin chains. In a heterozygote, it is associated with clinical findings of thalassaemia minor, but interactions with other haemoglobinopathies can lead to various clinical phenotypes and pose diagnostic challenges. We reported a pair of siblings from a Malay family, who presented with pallor and hepatosplenomegaly at the ages of 21 months and 14 months old. The red cell indices and peripheral blood smears of both patients showed features of thalassaemia intermedia. Other laboratory investigations of the patients showed conflicting results. However, laboratory investigation results of the parents had led to a presumptive diagnosis of compound heterozygote Hb Lepore/beta-thalassaemia and co-inheritance alpha(+)-thalassaemia (-alpha(3.7)). Hb Lepore has rarely been detected in Southeast Asian countries, particularly in Malaysia. These two cases highlight the importance of family studies for accurate diagnosis, hence appropriate clinical management and genetic counseling.