Table 1.
Clinical and laboratory parameters in the study cohort
| S.No. | Age (in years) At diagnosis | Sex | Hb (g/dL) | Retic count (%) | G6PD Values$ (U/g Hb) | LDH (U/L) | History of Hematuria | Coexisting clinical condition |
|---|---|---|---|---|---|---|---|---|
| 1* | 6 | Male | 7.6 | 16.68 | 1.1 | 3900 | Present | None |
| 2* | 2 | Male | TX | TX | 3.0 | 942 | Present | None |
| 3* | 1 | Male | 7.9 | 16.25 | < 0.2 | 7156 | NA | None |
| 4 | 3 | Female | 5 | NA | 5.1 | 5620 | Present | Cold Agglutinin Disease |
| 5 | 16 | Male | 8.9 | 3.53 | < 2.0 | 340 | Present | Beta Thalassemia Trait |
| 6 | 10 | Female | 11.2 | NA | < 2.1 | NA | Absent | Beta Thalassemia Trait |
| 7 | 1.5 | Male | 3.5 | NA | 1.7 | 2221 | NA | None |
| 8 | 0.8 | Male | 5.3 | 12 | < 2.1 | 752 | NA | Neonatal Hyperbilirubinemia |
| 9 | 2 | Male | 3.7 | NA | < 2.1 | NA | Present | None |
| 10 | 0.8 | Male | 5.6 | 12.9 | < 2.1 | 648 | NA | Neonatal Hyperbilirubinemia |
| 11 | 2 | Male | 2.8 | NA | 4.7 | NA | Present | Chemical Ingestion (Naphthalene Balls) |
| 12 | 29 | Female | 10.1 | 1.33 | < 2.1 | 650 | NA | Iron Deficiency Anemia + Ectopic gestation |
| 13 | 7 | Male | TX | 10.79 | NA | TX | Present | None |
| 14 | 2 | Male | 8.9 | 4.16 | < 2.1 | 743 | NA | Homozygous Sickle Cell Disease |
| 15 | 3 | Male | NA | NA | < 2.1 | NA | NA | NA |
| 16 | 13 | Female | NA | NA | < 2.1 | NA | NA | NA |
| 17 | 4 | Male | NA | NA | 0.5 | NA | Absent | Neonatal Hyperbilirubinemia |
| 18* | 10 | Male | 8 | NA | 0.3 | NA | Absent | None |
| 19 | 42 | Male | NA | NA | 0.23 | NA | NA | Neonatal Hyperbilirubinemia |
| 20 | 6 | Male | NA | NA | 1.3 | NA | NA | None |
| 21 | 18 | Male | 10.7 | NA | 0.6 | NA | NA | None |
| 22# | 8 | Male | 9.2 | 0.16 | 6.3 | 2614 | NA | Parvo virus B19 induced pure red cell aplasia |
| 23# | 0.6 | Male | 6.1 | 8.86 | 5.5 | 1142 | Absent | Hereditary spherocytosis |
| 24# | 23 | Female | 5.4 | 13.59 | 5.8 | 1085 | Present | Autoimmune hemolytic anemia |
*Patients with Novel variants
#Patients negative for G6PD mutations
$Biological Reference Range for G6PD is > 6.5 U/g Hb. TX transfused recently
NA not available, Hb Haemoglobin, LDH lactate dehydrogenase. Patients 1 and 3 were from the same family