A Swiss (εγδβ)⁰‐thalassemia patient with a novel 3‐Mb deletion associated with mild mental impairment

First report of εγδβ0‐thalassemia in a Brazilian family

“…1,2 To date, around forty deletions causing εγδβ-thalassemias have been described, mainly in European populations (Figure 1), although few have been fully characterized molecularly because of technical difficulties and the nature of the breakpoints. [2][3][4][5][6][7][8][9][10][11][12][13][14][15][16] Multiplex Ligation- The child's parents, who are clinically asymptomatic, had hematological abnormalities: The mother is heterozygous for HbC [HBB:c.19G>A; p.Glu6Lys (p.Glu7Lys)] and the father has mild anemia with marked microcytosis and hypochromia but without increased Hb A 2 or Hb F levels. The hematological data for the family are shown in Table 1.…”

Identification and molecular characterization of a novel 163 kb deletion: The Italian (ϵγδβ)0-thalassemia

“…To test the significance of these values, we looked for the phenotype of the (εγδβ) 0 -thalassemia carriers from literature (Table 2). [3][4][5][6][16][17][18][19][28][29][30] We compared (i) the Hb A2 values of the 19 (εγδβ) 0 -thalassemia Figure 3 Comparison of the HbA2 and Hb values between (εγδβ) 0 -thalassemia and α 0 -and β 0 -thalassemia carriers. (A) Histogram of the Hb A2 value of 92 heterozygotes for α 0 -thalassemia and of the 19 heterozygotes for (εγδβ) 0 -thalassemia from literature.…”