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Paediatrica Indonesiana 1964
Topics: Child, Preschool; Female; Humans; Indonesia; Spherocytosis, Hereditary
PubMed: 5873093
DOI: No ID Found -
Indian Pediatrics Oct 1984
Topics: Child; Female; Humans; Spherocytosis, Hereditary
PubMed: 6526494
DOI: No ID Found -
Acta Haematologica 2018
Topics: Biomarkers; DNA Mutational Analysis; Hemochromatosis; Humans; Jaundice; Mutation; Spherocytosis, Hereditary
PubMed: 29597199
DOI: 10.1159/000486948 -
Pediatrics in Review Oct 2020
Topics: Child; Dyspnea; Hemochromatosis; Humans; Male; Spherocytosis, Hereditary
PubMed: 33004574
DOI: 10.1542/pir.2017-0323 -
Medicine Mar 2021The etiology of non-immune hydrops fetalis is complex, and its prognosis is poor. One of its main causes is anemia. There are few reports on hydrops fetalis due to...
RATIONALE
The etiology of non-immune hydrops fetalis is complex, and its prognosis is poor. One of its main causes is anemia. There are few reports on hydrops fetalis due to anemia caused by hereditary spherocytosis (HS), especially regarding its occurrence in the neonatal period. Thus, we report on a case of neonatal HS caused by a new SPTB gene mutation that was characterized by hydrops fetalis.
PATIENT CONCERNS
A neonate with intrauterine hydrops fetalis showed severe hyperbilirubinemia and anemia, reticulocytosis, and hepatosplenomegaly. Laboratory examination findings were normal.
DIAGNOSES
Gene sequencing of the patient and his parents showed a de novo frameshift mutation in the patient's SPTB gene. Ultimately, the patient was diagnosed with HS.
INTERVENTIONS
Exchange and red blood cell transfusions were performed in the neonatal period.
OUTCOMES
The child was discharged from the hospital 14 days postnatal because his hemoglobin and bilirubin levels were stable. Red blood cell transfusion was performed once in infancy; however, no further red blood cell transfusions were required within 2 years of age.
LESSONS
Hydrops fetalis can be a manifestation of HS. Genetic detection can help confirm the diagnosis of suspected neonatal HS undocumented by other laboratory examinations.
Topics: DNA Mutational Analysis; Erythrocyte Transfusion; Frameshift Mutation; Hemoglobins; Humans; Hydrops Fetalis; Infant, Newborn; Male; Spectrin; Spherocytosis, Hereditary; Treatment Outcome
PubMed: 33761640
DOI: 10.1097/MD.0000000000024804 -
British Journal of Haematology Aug 1968
Topics: Adolescent; Chromium Isotopes; Erythrocyte Aging; Erythrocytes; Female; Humans; Organ Size; Osmotic Fragility; Spherocytosis, Hereditary; Spleen; Splenectomy
PubMed: 5675529
DOI: 10.1111/j.1365-2141.1968.tb01523.x -
Cutis Feb 2018The term blueberry muffin rash is used to describe the clinical presentation of dermal extramedullary hematopoiesis. The common culprits of this rash include a TORCH...
The term blueberry muffin rash is used to describe the clinical presentation of dermal extramedullary hematopoiesis. The common culprits of this rash include a TORCH (toxoplasmosis, other agents, rubella, cytomegalovirus, herpes) infection or hematologic dyscrasia. Association of this rash with hereditary spherocytosis is extremely rare. We present a unique case of a neonate born with a blueberry muffin rash secondary to hereditary spherocytosis.
Topics: Exanthema; Hematopoiesis, Extramedullary; Humans; Infant, Newborn; Male; Spherocytosis, Hereditary
PubMed: 29554165
DOI: No ID Found -
Obstetrics and Gynecology May 1992Hereditary spherocytosis is a spectrum of inherited erythrocyte membrane defects that result in hemolysis and varying degrees of anemia. Among 50 pregnancies in 23 women...
Hereditary spherocytosis is a spectrum of inherited erythrocyte membrane defects that result in hemolysis and varying degrees of anemia. Among 50 pregnancies in 23 women with spherocytosis, maternal complications were infrequent except for anemia, and perinatal outcomes were generally good. In six women, blood volume expansion estimated by 51chromium-tagged erythrocytes was similar to that for normal pregnant women. Mean red cell survival measured during seven pregnancies in six women ranged at 30-90 days, consistent with the heterogeneity of this disorder.
Topics: Female; Humans; Pregnancy; Pregnancy Complications, Hematologic; Pregnancy Outcome; Spherocytosis, Hereditary
PubMed: 1565358
DOI: No ID Found -
Coinheritance of hereditary spherocytosis with haemochromatosis: next-generation sequencing reveals.BMJ Case Reports Jan 2024We report the case of a man in his 50s with extravascular haemolysis, fluctuating indirect hyperbilirubinaemia, elevated transferrin saturation with hyperferritinaemia...
We report the case of a man in his 50s with extravascular haemolysis, fluctuating indirect hyperbilirubinaemia, elevated transferrin saturation with hyperferritinaemia and normal liver enzymes. Spherocytes were detected in a blood smear and a mutation of unknown significance, c.1626+1G>A p.?, in intron 13 of the gene, was identified by next-generation sequencing (NGS). The same mutation was found in his daughter, who presented with similar laboratory changes, confirming the diagnosis of hereditary spherocytosis. Abdominal MRI showed hepatosplenomegaly with hepatic iron overload. In this context of haemolysis (without anaemia) and iron overload, a diagnosis of haemochromatosis was presumed. NGS confirmed the presence of the variants p.(His63Asp) and p.(Cys282Tyr) in heterozygosity in the gene. We report this case for the rarity of co-existing two haematological diseases counteracting each other.
Topics: Humans; Male; Hemochromatosis; Hemolysis; High-Throughput Nucleotide Sequencing; Introns; Iron Overload; Spherocytosis, Hereditary; Middle Aged
PubMed: 38195192
DOI: 10.1136/bcr-2023-256891 -
Haematologica Dec 2012
Topics: Female; Humans; Male; Spherocytosis, Hereditary
PubMed: 23204480
DOI: 10.3324/haematol.2012.072660