ICD10 Code = P55.9
SPTB介導的紅血球表型
Genomic coordinate (human 14:64,746,283 SPTB).
Cytoband (human 14q23.3 SPTB).
OMIM’ genes @ 14q23.3 = 68 genes.
ClinVar = 1,840 SPTB genes reported.
PANTHER Classification of SPTB is assigned to the actin or actin-binding cytoskeletal protein class (PC00041).
Butterfly curve-plot of chromosome-14, “genes-per-cytoband” consists of 599 total-genes.
Chromosome Structure: WCWCCBG2BG4B2G2
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“SPTB-Mediated Erythrocyte Phenotypes”, Victor McKusick, Mendelian Inheritance in Man’, 1966. SPTB
INTRODUCTION.
Neonatal hemolytic anemia is a serious blood condition in which a newborn’s red blood cells break down faster than the bone marrow can replace them. This rapid cell destruction causes a shortage of oxygen-carrying red blood cells and a dangerous buildup of yellow pigment called bilirubin.
The SPTB-Linked Form Shown in the Diagram.
In the context of your chart, fatal or near-fatal neonatal hemolytic anemia is a severe genetic disorder caused by defects in beta-spectrin.
- Biallelic Inheritance. This severe form typically occurs when a baby inherits two mutated copies of the SPTB gene, one from each carrier parent. Parents with a single mutated copy usually have mild or unnoticeable symptoms.
- Extreme Membrane Fragility. Without functional beta-spectrin, the newborn’s red blood cells shatter easily under normal blood flow pressure.
- Prenatal and Birth Complications. Severe breakdown before birth can cause life-threatening fluid buildup in the fetus known as hydrops fetalis. Surviving infants often depend on regular red blood cell transfusions during early life.
