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Table 4 Summary of the diagnostic yield as well as proportion of various types of hereditary anemias in different studies

From: Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia

(patients)

Diagnostic yield

Membranopathy

Enzymopathy

Hemoglobinopathy

Non-hemolytic hereditary anemia

Fermo et al. [16]a

52.5% (64/122 patients)

54.3% (57/105 families)

67.2% (43/64)

25% (16/64)

N/A*

10.9% (7/64)

Russo et al. [17]b

64.7% (48/74)

62.5% (30/48)

25% (12/48)

N/A*

20.8% (10/48)

Nieto et al. [18]c

67.3% (111/165)

67.6% (75/111)

32.4% (36/111)

N/A*

1.8% (2/111)

Kim et al. [19]

71.4% (10/14)

50% (5/10)d

10% (1/10)e

40% (4/10)

0% (0/10)

Current study

62.1% (18/29)

61.1% (11/18)

16.7% (3/18)

22.2% (4/18)

5.6% (1/18)

  1. aTwo patients were diagnosed with both membranopathy and enzymopathy
  2. bFour patients were diagnosed with both membranopathy and non-hemolytic hereditary anemia
  3. cFour patients were diagnosed with both membranopathy and enzymopathy
  4. dOne patient only had a VOUS mutation
  5. eThis patient was a heterozygote carrier
  6. *Hemoglobin genes were not included in the NGS panels used for these studies
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BMC Medical Genomics

ISSN: 1755-8794

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