Table 1

Personal particulars, phenotype and globin genotype of 18 subjects with phenotypically unexplained microcytosis

Sample numberSex/AgeRBC (×1012/L)Hb (g/dL)MCV (fL)MCH (pg)Hb A2 (%)Hb F (%)Hb H granulesα gap-PCRα ARMSα sequencingα MLPAβ sequencingβ MLPAδ sequencing
1F/284.5112.079.626.63.20.7Neg4.2 HeteroNegNDNDNNDN
2M/125.2813.073.924.62.70.3NegNegHb CSNDNDNNDN
3F/394.8912.073.124.53.00.3NegNegHb QSNDNDNNDN
4F/442.997.172.623.72.70.5NegSEA HeteroNegNDNDNNDN
5F/425.0912.070.923.62.50.4NegNegHb QSNDNDNNDN
6M/124.8111.773.124.32.70.3NegNegNegNNegNNegN
7F/445.1013.177.825.63.00.5NegNegHb QSNDNDNNDN
8F/204.5611.778.725.72.70.2NegNegNegNNegNNegN
9M/235.4914.578.126.52.60.2NegNegHb CSNDNDNNDN
10F/385.0013.278.726.42.80.3Neg3.7 HeteroNegNDNDNNDN
11F/824.1510.578.825.22.30.5NegSEA HeteroNegNDNDNNDN
12M/815.2613.279.325.13.40.2NegNegHb QSNDNDNNDN
13F/514.4810.372.223.12.20.1Neg3.7 HeteroNegNDNDNNDN
14M/174.609.867.621.32.00.1Neg4.2 HeteroNegNDNDNNDN
15M/134.9112.777.025.92.60.5NegNegHb CSNDNDNNDN
16M/85.5612.870.523.02.90.3NegNegHb QSNDNDNNDN
17F/43.838.373.121.62.93.1NegNegNegNNegNNegN
18M/225.2213.477.725.62.90.3Neg4.2 HeteroNegNDNDNNDN
  • 3.7, α 3.7 kb deletion; 4.2, α 4.2 kb deletion.

  • ARMS, amplification refractory mutation system; CS, Constant Spring; Hb, haemoglobin; Hetero, heterozygous; MCH, mean corpuscular haemoglobin concentration; MCV, mean corpuscular volume; MLPA, multiplex ligation-dependent probe amplification; N, normal; ND, not done; Neg, negative; QS, Quong Sze; RBC, red blood cell count; SEA, α South-East Asian.