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Table 1 Clinical and laboratory features of ten patients with CSA and results of mutation analyses

From: Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing

ID Gender ACD HGB (g/L) MCV (fL) RDW-CV (%) RET (%) sFER (ng/mL) TS (%) RS (%) Complications Genetic mutation hom/het Result Prognosis Response to PPL
1 M At birth 50 88.1 15.1 0.68 505.96 28 28 Diabetes mellitus MtDNA 6250–12,498 del - COX1-ND5del Normal HGB at 11-month-old No
2 M 0.5 m 55 85.6 16.9 0.68 1101.9 ND 35 - MtDNA 8647–14399del - ATP6-ND5del Died at 7-month-old No
3 M 14 y 20 62 20.3 ND 6020 84 24 - ALAS2 c.1412G > A hom p.C471Y Normal HGB after PPL treatment Yes
4 M 2 m 50 68.8 34.5 2.06 450.6 90 32 - SLC25A38 c.400C > T hom p.R134C Transfusion dependence No
5 F 5 m 52 74.2 25.4 0.72 197 91 55 Hypospadias SLC25A38 c.560G > A hom p.R187Q Loss to follow-up No
6 M 3 m 49 74.4 ND 0.17 1434.5 81 64 - SLC25A38 c.260G > A,c.429delT,c.431 T > G het p.W87X, p.I143Pfs146X Transfusion dependence No
7 M 5 y 65 69.9 34.1 0.35 1296.3 98 M - ND - - Transfusion dependence No
8 M 1 y 70 80.8 29.6 1.72 73.14 35 40 - c.1997_1998insTAAT, c.2155_2156ins16 het Frameshift mutation Transfusion dependence No
9 M At birth 69 67 25.9 0.81 51.3 88 40 - ND - - Transfusion dependence No
10 F At birth 51 62.1 35.5 0.41 554.43 92 48 - ND - - Transfusion dependence No
  1. M male, F female, ACD age clinical detected, m months, y years, HGB hemoglobin, MCV Mean Corpuscular Volume, RDW-CV red cell distribution width, reference range 11 % to 14.1 %, RET reticulocyte count, sFER serum ferritin, TS transferrin saturation, RS ring sideroblast, MtDNA mitochondrial DNA, ND not detected, hom homozygous mutation, het heterozygous mutation, PPL pyridoxine