Table 1 IMD linked to microcytic anemia
From: Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review
Disease | Clinical signs | Biological signs | Gene (protein) | Diagnosis |
|---|---|---|---|---|
Sideroblastic anemia (ring sideroblasts) | ||||
XLSA | Liver cirrhosis and hepatocellular carcinoma | Iron overload + microcytic anemia | ALAS2 (ALAS2) | ALAS2 mutation |
SLC25A38 | / | Isolated microcytic anemia | SLC25A38 (SLC25A38) | SLC25A38 mutation |
GLRX5 | / * | GLRX5 (Glutaredoxin 5) | GLRX5 mutation | |
XLSA-A | Anemia before the age of 2, but ataxia can develop around 40 years | Microcytic or normocytic anemia | ABCB7 (ABCB7) | ABCB7 mutation |
SIFD | Recurrent infections, periodic fever, developmental delay | Microcytic anemia, hypogammaglobulinemia | TRNT1 (tRNA nucleotidyl transferase 1) | TRNT1 mutation |
[MLASA]1 | Myopathy (exercise intolerance), ± cardiomyopathy, diabetes | Lactic acidosis | PUS1 (tRNA pseudouridine synthase A), YARS 2 (tyrosyl-tRNA synthetase 2), MT-ATP6 (ATPase-6) | PUS1 mutation (if negative YARS 2 or MT-ATP6) |
[Pearson marrow pancreas syndrome]1 | Pancreatic dysfunction | Lactic acidosis | mtDNA deletion | mtDNA analysis |
Porphyria | ||||
CEP | Photosensitivity, corneal ulcer, skin atrophy, hypertrichosis, pink-red urine, erythrodontia | Hemolysis, basophilic stippling, macrocytic or microcytic anemia Urine: ↗ uroporphyrin I and coproporphyrin I Faeces: ↗ coproporphyrin I | UROS (uroporphyrinogen synthase) ± GATA1 (GATA1) mutation if microcytic anemia | Uroporphyrinogen III synthase activity (< 15%) |
EPP | Photosensitivity (erythema, edema, or isolated burning sensation but no blistering), Cholelithiasis, liver failure | Hepatic cytolysis, cholestasis, Plasma fluorescence peak at 634 nm testing | FECH (Ferrochelatase) | ↗ protoporphyrin concentration in plasma, erythrocytes, and feces |
Iron transport disorders | ||||
DMT1 deficiency | Severe liver iron overload | ↗ serum iron, normal total iron-TIBC, ↗ saturation of transferrin, slightly ↗ ferritin, and ↗ soluble transferrin receptor | SLC11A2 (DMT1) | SLC11A2 mutation |
Aceruloplasminemia | Triad: retinal degeneration, neuropsychiatric symptoms, and diabetes | ↘ or undetectable ceruloplasmin, ↘ transferrin saturation, and ↗ serum ferritin, | CP (ceruloplasmin) | CP mutation |
Atransferrinemia | Liver injury, heart failure, and Splenomegaly | ↘↘ serum iron transferrin level: 0 or ↘↘ | TF (transferrin) | TF mutation |
IRIDA syndrome | Iron deficiency anemia with poor response to oral iron treatment | ↘↘transferrin saturation ↘ low ferritin level | TMPRSS6 (Matriptase 2) | TMPRSS6 mutation |