Case Report
Diagnostic and Treatment Challenges of Paroxysmal Nocturnal Hemoglobinuria in Uganda
| | Blood tests | | Year | Test name | Results | Lab reference range |
| | 2012 | CBC | | | | (1) WBC | 2.2 × 10⁹/L | 3.5–10.5 × 10⁹/L | | (2) Hb | 3.4 g/dl | 13.5–17.5 g/dl | | (3) MCV | 116 fl | 80–96 fl | | (4) PLT | 123 × 10⁹/L | 150–450 × 10⁹/L | | Reticulocyte | 10.6% | 0.5–2.5% | | Peripheral smear | Pancytopenia, dimorphic, normocytic, and normochromic anemia | | | Serum B12 levels | 123.2 pmol/L | 141–698 pmol/L | | Serum folate levels | 45.4 nmol/L | 10.4–59 nmol/L | | AST | 2.35 ukat/L | 0.167–0.667 ukat/L | | Bilirubin total | 26 µmol/L | 1.7–20.5 µmol/L | | Bilirubin direct | 7 µmol/L | 5.1 µmol/L | | Antiglobulin test (both direct and indirect) | Negative | | | RDT for malaria | Negative | | | Urine chemistry | Hemoglobin pigments | | | Sickling test | Negative | |
| | 2013 | CBC | | | | (1) WBC | 2.6 × 10⁹/L | 3.5–10.5 × 10⁹/L | | (2) Hb | 5 g/dl | 13.5–17.5 g/dl | | (3) MCV | 101 fl | 80–96 fl | | (4) PLT | 130 × 10⁹/L | 150–450 × 10⁹/L | | Serum B12 levels | 991.6 pmol/L | 141–698 pmol/L | | AST | 1.2 ukat/L | 0.167–0.667 ukat/L | | Peripheral smear | Macrocytosis | | | Bone marrow aspirate and biopsy report | Erythropiosis: hyperplasia with megaloblastic maturation. No granulopoiesis: hyperplastic, left shift with giant metalocytes, and myeloblast <5% | |
| | 2014 | AST | 2.29 ukat/L | 0.167–0.667 ukat/L | | Bilirubin total | 43.2 µmol/L | 1.7–20.5 µmol/L | | Bilirubin direct | 5.8 µmol/L | 5.1 µmol/L | | LDH | 45.38 ukat/L | 2.67–7.5 ukat/L | | Antiglobulin test (both direct and indirect) | Negative | | | HBsAg | Nonreactive | | | Hepatitis C antibodies | Nonreactive | | | HIV rapid test | Nonreactive | | | Urine chemistry | Hemoglobin pigments | |
| | 2015 | Serum homocysteine levels | 21 µmol/L | 5–16 µmol/L | | Urine methylmalonic acid | 0.0 mmol/mol crt | 0.0–3.6 mmol/mol crt |
| | 2016 | Serum B12 levels | 1475.6 pmol/L | 141–698 pmol/L |
| | 2018 | CBC | | | | (1) WBC | 3.4 × 10⁹/L | 3.5–10.5 × 10⁹/L | | (2) Hb | 3.5 g/dl | 13.5–17.5 g/dl | | (3) MCV | 111 fl | 80–96 fl | | (4) PLT | 120 × 10⁹/L | 150–450 × 10⁹/L | | Abdominal ultrasound scan | Normal | | | Echocardiography | Dilated chambers of the heart with moderate tricuspid and mitral insufficiency. No features of pulmonary arterial hypertension | |
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CBC, complete blood count; WBC, white blood count; Hb, hemoglobin; MCV, mean corpuscular volume; PLT, platelets; RDT, rapid diagnostic test; HBsAg, hepatitis B surface antigen; AST, leukocyte aspartate aminotransferase; LDH, lactate dehydrogenase.
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