The compound state: Hb S/beta-thalassemia

Clinico- haematological Profile of Sickle Cell Disease and Sickle Cell BetaThalassaemia in the State of Odisha

“…All the 45 cases are sickling positive with mild anemia, leucocytosis, increased Serum Ferritin and decreased levels of MCV, MCH and MCHC. In our observation the mean fetal hemoglobin is raised to 21.63 and Hb A2 to 4.12%, which is >3.5%, and high percentage of HbS range (45.9 to 82.3) the mean is being 69.45 suggestive of sickle cell-β-thalassemia (1,5,14) . We compared Sickle Cell Disease with Sickle β+ Thalassemia in (Table No 6).…”

“…The mean height, serum ferritin and HbS levels in are significantly higher in Sickle Cell Disease than Sickle Beta Thalassemia. [14] It is apparent from (Table No 6) that the majority of the Sickle Cell Disease and sickle cell-β -thalassemia cases showed reduced values of red cell indices like MCV, MCH and MCHC suggestive of hypochromic and microcytic anaemia (15) . Following Hydroxyurea treatment, there are overall increases in HbF in most of the cases with reductions in the frequency of vasoocclusive crisis & avascular necrosis as hydroxyurea increases the red cells containing an increased amount of fetal hemoglobin, which inhibits HbS polymerization, and decrease of leukocytes and platelets, which significantly limits their adherence to the vascular wall (16,17) .…”

Human hemoglobin G-Makassar variant masquerading as sickle cell anemia

“…Hb G-Makassar cannot be distinguished from Hb S by isoelectric focusing, HPLC, globin chain electrophoresis or hemoglobin electrophoresis. 15 Table 1 shows the identification of Hb G-Makassar in this case was obtained by β DNA sequence analysis, which revealed a single nucleotide substitution GAG−>GCG of β-globin gene at codon 6 [β 6:Glu−>Ala] and Heterozygous codon 26 [GAG>AAG] HbE (β E ). As there was no sickle cell noted on peripheral blood film, sickling test can be performed to identify the presence of Hb S. 16 , 17…”

“…Homozygous expression of Hb S concludes sickle cell disease, which is a vaso-occlusive condition and chronic hemolytic anemia that can sometimes be fatal. 15 Hb G-Makassar heterozygotes are haematologically normal and clinically asymptomatic but Hb GMakassar/ β 0 -thalassemia compound heterozygote has attribute to thalassemia minor. On the other hand, homozygous Hb G-Makassar is almost normal and did not have any abnormal clinical feature.…”

Sickle cell disease

“…HbSC disease is a condition with generally milder haemolytic anaemia and less frequent acute and chronic complications than SCA, although retinopathy and osteonecrosis (also known as bone infarction, in which bone tissue is lost owing to interruption of the blood flow) are common occurrences 258 . The β S allele combined with a null HBB allele (Hbβ 0 ) that results in no protein translation results in HbSβ 0 -thalassaemia, a clinical syndrome indistinguishable from SCA except for the presence of microcytosis (a condition in which erythrocytes are abnormally small) 259 . The β S allele combined with a hypomorphic HBB allele (Hbβ + ) (with a decreased amount of normal beta globin protein) results in HbSβ + -thalassaemia, a clinical syndrome generally milder than SCA owing to low level expression of normal HbA.…”