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Vol. 45. Núm. S3.
XIV Eurasian Hematology Oncology Congress
Páginas S24-S25 (Outubro 2023)
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Vol. 45. Núm. S3.
XIV Eurasian Hematology Oncology Congress
Páginas S24-S25 (Outubro 2023)
OP 19
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THE SIGNIFICANCE OF NEXT-GENERATION SEQUENCING IN NON-IMMUNE HEMOLYTIC ANEMIAS AMONG NORMOCHROMIC-NORMOCYTIC ANEMIAS
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Hatice Mine Cakmak1
1 Duzce University
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Vol. 45. Núm S3

XIV Eurasian Hematology Oncology Congress

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Objective

Next-generation sequencing studies increased the exact diagnosis of unexplained normochromic-normocytic anemias and other anemias. Targeted next-generation sequencing studies allow the diagnosis of cytoskeleton defects, atypical cases, and some enzyme deficiencies. We aimed to compare the children with non-immune hemolytic anemia (n=13), and the others without non-immune hemolytic anemia (n=19) in the means of demographics, diagnosis, detected mutations, and laboratories.

Methodology

In this study, the children who were examined in the Pediatric Hematology-Oncology Clinic of Duzce University School of Medicine and had unexplained anemia (n=29) underwent next-generation studies. The demographics, laboratory values, and genetic findings of two groups (non-immun hemolytic anemia and the others) were compared. We also found two novel mutations, one with hereditary spherocytosis and one with hereditary elliptocytosis. Mean, standard deviation, median minimum, maximum, frequency and ratio values were used in descriptive statistics of the data. The distribution of variables was measured with the Kolmogorov-Simirnov test. Independent sample t test and mann-whitney u test were used to analyze quantitative independent data. The chi-square test was used to analyze qualitative independent data. SPSS 28. 0 program was used in the analysis

Results

Conclusion

The demographics and the laboratory results are explained in Table 1. Comparing the non-immune hemolytic anemia patients (n=13) with the others (n=19), we found that membrane disorders rates, identified mutations associated with anemia, mean cell volume, mean cell hemoglobin, thrombocyte, reticulocyte, and absolute reticulocyte levels were higher, hemoglobin and erythrocyte levels were lower in the non-immun lower in the non-immune hemolytic anemia group (Table 2). The novel mutations are shown

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Table 1) Demographics of the patients with unexplained anemia

    Min-Max.Median  Mean.±s.d./n-%
Age (years)0.1  17.0  0.1  5.3  ±  4.8 
Age at onset of symptoms (years)0.0  17.0  0.0  2.1  ±  4.2 
GenderGirl            6.8% 
Boy          23    17.4% 
Nonimmune Hemolytic Anemia (+)(+)          13    9.8% 
(-)          19    14.4% 
Nonimmune Hemolytic Anemia (+)(-)          22    16.7% 
(+)          10    7.6% 
Identified Anemia Mutation(-)          29    22.0% 
(+)            2.3% 
Other defined mutations(-)          23    17.4% 
(+)            6.8% 
Enzyme Deficiency(-)          27    20.5% 
(+)            3.8% 
Erythrocyte count (109)1.7  4.6  1.7  3.3  ±  0.9 
Hct (%)14.7  38.0  14.7  27.9  ±  6.3 
Hb (g/dl)4.7  27.0  4.7  9.9  ±  3.7 
MCV (fL)14.7  111.0  14.7  84.3  ±  15.8 
MCH (pg)22.0  97.0  22.0  30.6  ±  12.6 
MCHC (g/dl)30.0  36.1  30.0  32.9  ±  1.5 
RDW (%)10.9  21.7  10.9  15.1  ±  2.6 
Thrombocyte count (x10³/ml)94.0  567.0  94.0  354.1  ±  112.2 
Reticulocyte (%)0.1  23.7  0.1  3.9  ±  5.7 
Adjusted reticulocyte count (%)0.0  12.7  0.0  2.8  ±  3.3 
Transfusion rates (/yıl)0.0  4.0  0.0  0.6  ±  1.3 
Total bilirubin (mg/dl)0.0  14.0  0.0  4.0  ±  4.9 
İndirect bilirübin (mg/dl)0.0  13.2  0.0  2.8  ±  4.1 
Ferritin (ng/ml)14.5  1392.0  14.5  192.0  ±  315.8 

Abbreviations: Hct: Hematocrite, Hb: Hemoglobin, MCV: Mean cell volüme, MCHC: mean cell hemoglobin concentration, RDW: red cell distribution width

Table 2) Comparing the children with versus without non-immune hemolytic anemia

    non-immune hemolytic anemia (+)non-immune hemolytic anemia (-)p
    Mean.±SD/n-%Median  Mean.±SD/n-%Median 
Age (years)5.1  ±  6.2  1.5  5.4  ±  3.9  5.0  0.247  m 
Age at onset of symptoms2.4  ±  5.7  0.0  1.9  ±  3.0  0.0  0.544  m 
GenderFemale    46.2%      15.8%    0.061
Male    53.8%    16    84.2%   
Immun hemolytic anemia(-)    46.2%    16    84.2%    0.023
(+)    53.8%      15.8%   
Identified anemia mutation(-)  10    76.9%    19    100%    0.028
(+)    23.1%      0.0%   
Other defined mutation(-)    69.2%    14    73.7%    0.783
(+)    30.8%      26.3%   
(+)    23.1%      10.5%   
Erythrocyte (10²/ml)2.9  ±  0.8  3.2  3.5  ±  0.9  3.7  0.030  m 
Hct (%)26.2  ±  6.4  28.0  29.0  ±  6.1  29.8  0.234  m 
Hb (g/dl)8.6  ±  2.1  9.2  10.8  ±  4.3  10.2  0.058  m 
MCV (fL)90.8  ±  9.5  90.0  79.9  ±  17.9  82.0  0.021  m 
MCH (pg)35.1  ±  18.9  30.6  27.6  ±  3.2  27.0  0.030  m 
MCHC (g/dl)33.0  ±  1.7  32.6  32.9  ±  1.4  32.6  0.835  t 
RDW (%)15.4  ±  3.5  14.0  15.0  ±  1.8  15.0  0.673  m 
Thrombocyte (x10³/ml)412  ±  104  384  314  ±  102  314  0.013  t 
Reticulocyte (%)6.6  ±  7.1  3.2  1.1  ±  0.6  1.2  0.001  m 
Adjusted reticulocyte count (%)4.4  ±  4.0  2.3  0.9  ±  0.4  1.0  0.001  m 
Transfusion rates (/year)0.9  ±  1.6  0.0  0.2  ±  0.6  0.0  0.150  m 
Total bilirübin (mg/dl)4.8  ±  4.7  3.3  3.2  ±  5.1  0.4  0.124  m 
İndirect bilirübin (mg/dl)4.0  ±  4.6  2.3  1.5  ±  3.0  0.2  0.065  m 
Ferritin (ng/ml)295  ±  186  236  144  ±  356  23  0.005  m 

Abbreviations: Hct: Hematocrite, Hb: Hemoglobin, MCV: Mean cell volüme, MCHC: mean cell hemoglobin concentration, RDW: red cell distribution width, tt test / m Mann-whitney u test / Ki-kare test

Patient  Gen  Nucleotide Protein Change  Zygosis  dbSNP  Effect  Variant Classification  Disease (Dominance, OMIM#) 
ANK1  NM_001142446.2:c.747 C>G p.Tyr249*  het  stop gain  Sferocytosis type 1; AD:18900 
SPTB  NM_001024858.3:c.4891 C>T p.Arg1631Cys  het  rs372503030  nonsynonymous-SNV  VUS  Spectrin Beta Erythrocytic; 182870) 
SPTB  NM_001024858.3:c.4 355C>T p.Ala1452Val  het  rs768609633  nonsynonymous-SNV  VUS  Spectrin Beta Eritrocytic; 182870 

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Hematology, Transfusion and Cell Therapy
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