Page 24 - Educacional Ponenecias Congreso SEHH-STH 2020

Table 1. Genes in the red blood cells (RBC) disorders’ targeted next generation sequencing (NGS) panel, associated clinical phenotypes and Mendelian inheritance patterns
Genes
HBB
HBA1, HBA2 HBB, HBA1, HBA2
G6PD
PGK1
ALDOA, AK1, GPI, PKLR, HK1, NT5C3A, TPI1, GSR, GSS
ANK1, SLC4A1, SPTB EPB42, SPTA1, EPB41, SPTA1, SPTB EPB41, SPTA1, SPTB SLC4A1
PIEZO1, KCNN4 RHAG
ABCB6
CDAN1, C15ORF41 SEC23B
KIF23
KLF1, GATA-1
ALAS2
SLC25A38, GLRX5, HSPA9
TMPRSS6 SLC11A2
Russo R, Andolfo I, Iolascon A. Next generation research and therapy in red blood cell diseases. Haematologica. 2016;101:515-7.
Russo R, Andolfo I, Manna F, Gambale A, Marra R, Rosato BE, et al. Multi-gene panel testing improves diagnosis and management of patients with heredi- tary anemias. Am J Hematol. 2018 May;93(5):672-82.
Inheritance
Autosomal recessive Autosomal recessive Autosomal dominant Autosomal recessive Autosomal recessive Autosomal dominant Autosomal dominant Autosomal dominant
X-linked
X-linked
Autosomal recessive
Autosomal dominant, de novo Autosomal recessive Autosomal dominant Autosomal recessive Autosomal dominant Autosomal dominant Autosomal dominant Autosomal dominant
Autosomal recessive Autosomal recessive Autosomal dominant Autosomal dominant, X linked
X-linked
Autosomal recessive
Autosomal recessive Autosomal recessive
Sankaran VG, Gallagher PG. Applications of high-throughput DNA sequencing to benign hematology. Blood. 2013;122:3575-82.
Taylor JC, Martin HC, Lise S, Broxholme J, Cazier JB, Rimmer A, et al. Factors influ- encing success of clinical genome sequencing across a broad spectrum of disorders. Nat Genet. 2015 Jul;47(7):717-26
Clinical phenotypes
α- and β-globin genes
Hemoglobinopathies
β-thalassemia major
β-thalassemia intermedia
Dominant β-thalassemia intermedia
Sickle cell disease
Hb H disease
Hemolytic anemia due to unstable Hb
Congenital erythrocytosis due to high affinity Hbs
Cyanosis due to Hb M
RBC enzymes
Enzymopathies
Acute/Chronic hemolytic anemia
Chronic hemolytic anemia
Congenital hemolytic anemia
RBC membrane
Membranopathies
Hereditary spherocytosis
Hereditary spherocytosis
Hereditary elliptocytosis
Hereditary pyropoikilocytosis
Ovalocytosis Southeast Asian type
Dehydrated hereditary stomatocytosis (xerocytosis)
Overhydrated hereditary stomatocytosis
Familial pseudohyperkalemia
Erythroid differentiation
Congenital dyserythropoietic anemia
CDA type I
CDA type II
CDA type III familial
CDA like
Heme metabolism
Congenital sideroblastic anemia
X-linked sideroblastic anemia
Sideroblastic anemia
Iron metabolism
Iron-refractory iron deficiency anemia (IRIDA)
DMT1-deficiency anemia
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