ANEMIA, SIDEROBLASTIC, 1; SIDBA1

Question 1

What is  ANEMIA, SIDEROBLASTIC, 1; SIDBA1?

Accepted Answer

rare
X-linked recessive
mutation in the gene encoding delta-aminolevulinate synthase-2
X-linked sideroblastic anemia is the most common non-syndromic genetic form

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

X-chromosomale sideroblastische Anämie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 300751

Question 4

Which enzymes are involved?

Accepted Answer

Solute carrier family 25 member 38

Disease	ANEMIA, SIDEROBLASTIC, 1; SIDBA1
OMIM	300751 OMIM = Online Mendelian Inheritance of Men
Orphanet	75563
Protein (UniProt)	Solute carrier family 25 member 38
Gene locus	Xp11.21
ICD	D64.0
Summary	rare X-linked recessive mutation in the gene encoding delta-aminolevulinate synthase-2 X-linked sideroblastic anemia is the most common non-syndromic genetic form
Laboratory findings	Ferritin inc (serum) Hemoglobine dec (blood)
Symptoms	anemia onset, adolescent onset, childhood onset, fetus onset, infancy onset, neonatal onset, variable age sideroblastic anemia