New insights on hereditary erythrocyte membrane defects

I Andolfo, R Russo, A Gambale, A Iolascon - Haematologica, 2016‏ - pmc.ncbi.nlm.nih.gov
After the first proposed model of the red blood cell membrane skeleton 36 years ago, several
additional proteins have been discovered during the intervening years, and their …

Laboratory approach to hemolytic anemia

M Jamwal, P Sharma, R Das - The Indian Journal of Pediatrics, 2020‏ - Springer
Hemolytic anemias are a group of disorders with varied clinical and molecular
heterogeneity. They are characterized by decreased levels of circulating erythrocytes in …

Molecular diagnostic update in hereditary hemolytic anemia and neonatal hyperbilirubinemia

A Rets, AL Clayton, RD Christensen… - … journal of laboratory …, 2019‏ - Wiley Online Library
Hereditary hemolytic anemia (HHA) is a group of genetically and phenotypically
heterogeneous disorders characterized by premature destruction of red blood cells (RBC s) …

Overview of Gilbert's syndrome

D King, MJ Armstrong - Drug and therapeutics bulletin, 2019‏ - dtb.bmj.com
Gilbert's syndrome (GS) is a benign hereditary disorder of bilirubin conjugation resulting in
an isolated, elevated blood level of unconjugated bilirubin. 1 GS affects 2%–10% of the …

Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next‐generation sequencing: first South Asian study

A Aggarwal, M Jamwal, P Sharma… - British Journal of …, 2020‏ - Wiley Online Library
Defects in various erythrocyte membrane proteins genes (ankyrin, band‐3, β‐and α‐spectrin
and protein 4· 2) can cause hereditary spherocytosis (HS). This molecular heterogeneity of …

[HTML][HTML] Gilbert syndrome in patients with inherited hemolytic anemia modifies the clinical phenotype

A Agrawal, J Chandra - Pediatric Hematology Oncology Journal, 2024‏ - Elsevier
Gilbert syndrome is a benign condition due to UGT1A1 mutations frequently resulting in
mild, indirect hyperbilirubinemia. Inherited hemolytic anemias often present with …

Disorders of abnormal hemoglobin

R Das, P Sharma - Clinical Molecular Medicine, 2020‏ - Elsevier
Hemoglobin abnormalities include globin chain defects resulting in the thalassemia
syndromes as well as structurally and functionally variant hemoglobins (Hbs) that may be …

Hereditary Spherocytosis in the Neonatal Period: A Case Report.

A Will, CA Henderson, AJ Jnah… - Neonatal …, 2017‏ - connect.springerpub.com
Neonatal Network and amphetamines. Toxicology screening was negative at time of
delivery. Maternal and infant blood types were both O with negative direct antiglobulin test …

Gilbert syndrome with systemic lupus erythematosus presenting with persistent unconjugated hyperbilirubinemia: A case report

N Ye, Z Zhou, H Gong, J Teng… - Experimental and …, 2020‏ - spandidos-publications.com
Gilbert syndrome (GS) is a hereditary unconjugated hyperbilirubinemia that results from
mutations in the bilirubin uridine diphosphate-glucuronosyltransferase (UGT1A1) gene. To …

Genetic diagnosis history and osteoarticular phenotype of a non-transfusion secondary hemochromatosis

DD Ruan, YM Gan, T Lu, X Yang… - World Journal of …, 2020‏ - pmc.ncbi.nlm.nih.gov
BACKGROUND It is not easy to identify the cause of various iron overload diseases
because the phenotypes overlap. Therefore, it is important to perform genetic testing to …