Anemia, Sideroblastic, 1; Sidba1

Description

The essential features of X-linked sideroblastic anemia include the following: (1) a hypochromic microcytic anemia and 2 discrete populations of red blood cells, one microcytic and the other normocytic; (2) marrow ringed sideroblasts, particularly prominent in the late erythroid precursors; (3) a variable hematologic response to pharmacologic doses of pyridoxine; and (4) systemic iron overload secondary to chronic ineffective erythropoiesis. The age of clinical onset of the disorder can vary from in utero to the ninth decade. Whereas males are preferentially affected, females may present with clinically severe anemia. More commonly, female carriers of the disease have an increased red blood cell distribution width and sometimes erythrocyte dimorphism (Fleming, 2002). Genetic Heterogeneity of Sideroblastic AnemiaSee also SIDBA2 (OMIM ), caused by mutation in the SLC25A38 gene (OMIM ) on chromosome 3p22; SIDBA3 (OMIM ), caused by mutation in the GLRX5 gene (OMIM ) on chromosome 14q32; and SIDBA4 (OMIM ), caused by mutation in the HSPA9 gene (OMIM ) on chromosome 5q31.

Clinical Features

Top most frequent phenotypes and symptoms related to Anemia, Sideroblastic, 1; Sidba1

  • Pica
  • Ataxia
  • Ptosis
  • Muscle weakness
  • Milia
  • Anemia
  • Splenomegaly
  • Fatigue
  • Elevated hepatic transaminase
  • Dyspnea
And another 14 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Anemia, Sideroblastic, 1; Sidba1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
Hemolytic Anemia Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ALDOA, ALAS2, GPX1, GPI, AK1, NT5C3A, HK1, PFKM, SLC2A1, G6PD, COL4A1, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1, ABCG5 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Congenital Dyserythropoietic Anemia Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ALAS2, KIF23, GATA1, KLF1, CDAN1, SEC23B, C15orf41, LPIN2
Specificity
13 %
Genes
100 %
ALAS2 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ALAS2
Specificity
100 %
Genes
100 %
Inherited Bone Marrow Failure Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA2, RUNX1, ALAS2, RPL35A, HAX1, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, RTEL1, WAS, SBF2, GATA1, RPS26, RPS10 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA1, BRCA2, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, ALAS2, RPL35A, HAX1, ANKRD26, FANCC, BLM, PTPN11, RPS19, TINF2, CBL, ATM, NBN , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Hyperferritinemia Panel.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

HFE, ALAS2, SLC25A38, CDAN1, SEC23B, FTL, CP, SLC40A1, TFR2, HAMP, HJV, B2M, FTH1, STEAP3, TF
Specificity
7 %
Genes
100 %
X-linked sideroblastic anemia (sequence analysis of ALAS2 gene).

By CGC Genetics in Portugal.

ALAS2
Specificity
100 %
Genes
100 %
Porphyria Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ALAS2, FECH, PPOX, CPOX, UROS, UROD, HMBS, ALAD
Specificity
13 %
Genes
100 %
Chronic/Cutaneous Porphyria Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ALAS2, FECH, PPOX, CPOX, UROS, UROD
Specificity
17 %
Genes
100 %
X-linked Sideroblastic Anemia via ALAS2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ALAS2
Specificity
100 %
Genes
100 %
ALAS2.

By Department of Clinical Genetics Odense University Hospital in Denmark.

ALAS2
Specificity
100 %
Genes
100 %
Hepatic and pancreatic diseases - panels.

By MGZ Medical Genetics Center in Germany.

HFE, ABCB11, ABCB4, ATP7B, ATP8B1, INVS, HNF1B, TRMU, CC2D2A, JAG1, NPHP3, NPHP1, NPHP4, POLG, ALAS2, SLC25A13, SMPD1, DGUOK, FAH, MPV17 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Comprehensive mitochondrial disorders panel.

By Centogene AG - the Rare Disease Company in Germany.

MCCC1, MCCC2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRB, HLCS, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, STAR, MTRR , (...)

View the complete list with 160 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Protoporphyria, erythropoietic, X-linked.

By Centogene AG - the Rare Disease Company in Germany.

ALAS2
Specificity
100 %
Genes
100 %
Anemia, sideroblastic, X-linked.

By Centogene AG - the Rare Disease Company in Germany.

ALAS2
Specificity
100 %
Genes
100 %
Congenital sideroblastic anemia panel.

By Centogene AG - the Rare Disease Company in Germany.

YARS2, ALAS2, PUS1, ABCB7, SLC25A38, GLRX5, SLC19A2, TRNT1
Specificity
13 %
Genes
100 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Diseases (mtDNA and 133 nuclear genes).

By Asper Biogene Asper Biogene LLC in Estonia.

AARS2, ACAD9, ACADL, ACADM, ACADS, ACADVL, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB, HLCS, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, C12orf65, SLC37A4 , (...)

View the complete list with 112 more genes
Specificity
1 %
Genes
100 %
Porphyria.

By Asper Biogene Asper Biogene LLC in Estonia.

HFE, ALAS2, FECH, PPOX, CPOX, UROS, UROD, HMBS, ALAD
Specificity
12 %
Genes
100 %
Hereditary Sideroblastic Anemia.

By Asper Biogene Asper Biogene LLC in Estonia.

YARS2, ALAS2, PUS1, ABCB7, SLC25A38, GLRX5, SLC19A2, TRNT1, HSPA9
Specificity
12 %
Genes
100 %
NGS Panel for Congenital and Acquired Sideroblastic Anemia.

By BLOODGENETICS BLOODGENETICS in Spain.

YARS2, ALAS2, PUS1, ABCB7, SLC25A38, GLRX5, MT-ATP6, SLC19A2, LARS2, SF3B1, TRNT1, STEAP3, NDUFB11, HSPA9
Specificity
8 %
Genes
100 %
NGS Panel for Erythropoietic protoporphyria and congenital erythropoietic porphyria.

By BLOODGENETICS BLOODGENETICS in Spain.

ALAS2, FECH, UROS, CLPX
Specificity
25 %
Genes
100 %
Anemia, sideroblastic, X-linked: ALAS2 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ALAS2
Specificity
100 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
ALAS2.

By Fulgent Genetics Fulgent Genetics in United States.

ALAS2
Specificity
100 %
Genes
100 %
X-chromosome High Resolution microarray analysis.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK , (...)

View the complete list with 140 more genes
Specificity
1 %
Genes
100 %
Porphyria Panel.

By Blueprint Genetics in Finland.

HFE, ALAS2, FECH, PPOX, CPOX, UROS, UROD, HMBS, ALAD
Specificity
12 %
Genes
100 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Anemia Panel.

By Blueprint Genetics in Finland.

BRCA2, HFE, YARS2, PC, HBB, AMN, MTR, CLCN7, ALAS2, GPI, RPL35A, PUS1, PDHA1, ABCB7, TCN2, NT5C3A, CUBN, CYB5R3, SLC25A38, PDHX , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Congenital sideroblastic anemia.

By Bioarray in Spain.

ALAS2
Specificity
100 %
Genes
100 %
SIDEROBLASTIC ANEMIA.

By Laboratorio de Genetica Clinica SL in Spain.

ALAS2
Specificity
100 %
Genes
100 %
ERYTHROPOIETIC PROTOPORPHYRIA.

By Laboratorio de Genetica Clinica SL in Spain.

ALAS2, FECH
Specificity
50 %
Genes
100 %
X-Linked Sideroblastic Anemia , Sequencing ALAS2 Gene.

By Reference Laboratory Genetics in Spain.

ALAS2
Specificity
100 %
Genes
100 %
Sideroblastic Anemia , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

YARS2, ALAS2, PUS1, ABCB7, SLC25A38, GLRX5
Specificity
17 %
Genes
100 %
Protoporphyria: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ALAS2
Specificity
100 %
Genes
100 %

Alternate names

Anemia, Sideroblastic, 1; Sidba1 Is also known as anemia, sideroblastic, x-linked;xlsa, anemia, hypochromic;anh1, anemia, hereditary sideroblastic, hereditary iron-loading anemia;xlsa.


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