Variations in Both α-Spectrin &lt;b&gt;&lt;i&gt;(SPTA1)&lt;/i&gt;&lt;/b&gt; and β-Spectrin (&lt;b&gt;&lt;i&gt;SPTB&lt;/i&gt;&lt;/b&gt;) in a Neonate with Prolonged Jaundice in a Family where Nine Individuals Had Hereditary Elliptocytosis

Christensen, Robert D.; Nussenzveig, Roberto; Reading, N. Scott; Agarwal, Archana; Prchal, Josef T.; Yaish, Hassan M.

doi:10.1159/000354884

Cited by 28 publications

(19 citation statements)

References 24 publications

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“…Newborns who present with severe, idiopathic hyperbilirubinemia should undergo genetic studies so that an accurate diagnosis can be established [15,16,17,18]. …”

Section: Discussionmentioning

confidence: 99%

Prolonged Hyperbilirubinemia in a Neonate with a Novel Mutation in the UDP-glucuronosyltransferase 1A1 Gene

Tsai²,

Shih³

et al. 2016

Neonatology

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The total bilirubin value of a male infant was 385 μmol/l on day 5. Liver function test results were normal and there was no evidence of sepsis and no hemolysis reaction. Phototherapy was administered and on day 8 the patient's total bilirubin level was 255 μmol/l. Intermittent episodes of hyperbilirubinemia occurred without phototherapy, with the total bilirubin level reaching 335 μmol/l on day 19. A 3-day regimen of phenobarbital was administered and on day 24 his total bilirubin level was 180 μmol/l. The patient was discharged. At the age of 2 months, the total bilirubin value was 27 μmol/l. His direct bilirubin value was <15% of total bilirubin in every determination. A family study of the UDP-glucuronosyltransferase(UGT)1A1 gene showed that the infant carries a homozygous mutation at nucleotide -3279 plus compound heterozygous mutations at nucleotides 782 and 1091. The mutation at nucleotide 782 is a novel finding. Gilbert's syndrome was diagnosed.

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“…Newborns who present with severe, idiopathic hyperbilirubinemia should undergo genetic studies so that an accurate diagnosis can be established [15,16,17,18]. …”

Section: Discussionmentioning

confidence: 99%

Prolonged Hyperbilirubinemia in a Neonate with a Novel Mutation in the UDP-glucuronosyltransferase 1A1 Gene

Tsai²,

Shih³

et al. 2016

Neonatology

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“…However, an important exception, often resulting in severe neonatal jaundice, occurs when a neonate inherits a HE mutation from one parent, and also inherits a different RBC membrane defect from the other parent, similar to an autosomal recessive condition. We recently reported such a neonate in detail [23] with a condition termed pyropoikilocytosis.…”

Section: Elliptocytesmentioning

confidence: 99%

Neonatal Hemolytic Jaundice: Morphologic Features of Erythrocytes That Will Help You Diagnose the Underlying Condition

2014

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Background: Many cases of severe neonatal hyperbilirubinemia never have the underlying cause of the jaundice clearly identified. Thus they are said to have ‘idiopathic' severe neonatal jaundice. However, finding the exact cause, if it is a genetic condition, can enable informed anticipatory guidance regarding future episodes of hemolysis, anemia, or bilirubin cholelithiasis. Objective: ‘Next generation' gene sequencing can often reveal the mutations responsible for severe neonatal hyperbilirubinemia, but wisely using this new technology involves selective application, employing this testing only if inexpensive technology fails to reveal the diagnosis. Methods: In this review, we display and discuss five types of red blood cell morphological abnormalities that have helped us categorize cases of neonatal hemolytic jaundice. Results: As an aid to applying inexpensive technology, we review morphological abnormalities of erythrocytes that are easily identified on a blood film. When found, these abnormalities can be important clues to the underlying hemolytic condition giving rise to neonatal jaundice. Conclusions: Applying these simple and inexpensive methods can assist neonatologists in caring for neonates who have hemolytic jaundice. We predict that by using these principles the term ‘idiopathic' neonatal jaundice will become less common as the underlying causes are identified.

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“…material; for all online suppl. material, see www.karger.com/doi/10.1159/000363219) encoding cytoskeletal proteins, enzymes, and UGT1A1 polymorphisms and mutations, covering the pathologic mutations reported in the human gene mutation database, which include: coding region, splice site junctions, and deep intronic or regulatory regions [4]. We developed this panel to evaluate neonates with severe jaundice when the etiology was unclear [5].…”

Section: Casementioning

confidence: 99%

“…Targeted gene capture and library construction for next-generation sequencing was performed as we previously described [4,5] using HaloPlex (Agilent Technologies, Santa Clara, Calif., USA). Sequencing was done on a HiSeq 2000 system (Illumina, San Diego, Calif., USA).…”

Section: Casementioning

confidence: 99%

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A Previously Unknown Mutation in the Pyruvate Kinase Gene (PKLR) Identified from a Neonate with Severe Jaundice

Yaish¹,

Nussenzveig

Agarwal

et al. 2014

Neonatology

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We report a neonate with early and severe hemolytic jaundice and low erythrocyte pyruvate kinase enzymatic activity (<2 U/g hemoglobin, reference interval 9-22). We found her asymptomatic mother to be heterozygous for a novel PKLR mutation (c.1573delT) with an erythrocyte PK activity of 6.2 U/g hemoglobin. Her asymptomatic father was heterozygous for the common Northern European PKLR mutation (c.1529A) with an erythrocyte PK activity of 3.6 U/g. The neonate was a compound heterozygote with both mutations, but with no other mutations identified by sequencing a panel of 27 genes involved in severe neonatal jaundice.

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Variations in Both α-Spectrin <b><i>(SPTA1)</i></b> and β-Spectrin (<b><i>SPTB</i></b>) in a Neonate with Prolonged Jaundice in a Family where Nine Individuals Had Hereditary Elliptocytosis

Cited by 28 publications

References 24 publications

Prolonged Hyperbilirubinemia in a Neonate with a Novel Mutation in the <b><i>UDP-glucuronosyltransferase 1A1</i></b> Gene

Prolonged Hyperbilirubinemia in a Neonate with a Novel Mutation in the <b><i>UDP-glucuronosyltransferase 1A1</i></b> Gene

Neonatal Hemolytic Jaundice: Morphologic Features of Erythrocytes That Will Help You Diagnose the Underlying Condition

A Previously Unknown Mutation in the Pyruvate Kinase Gene <b><i>(PKLR)</i></b> Identified from a Neonate with Severe Jaundice

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