Thurston syndrome with thalassaemia : a rare case devising a novel molecular and phenotypic variation
© BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ..
A male infant presented with progressive paleness of the body since 3 months of age. On examination, the child had pallor, microcephaly with dysmorphic facies (depressed nasal bridge, low set ears, retrognathia, high arched palate and tongue hamartoma). Postaxial polydactyly in bilateral hands and feet, broad great toes, with syndactyly of left fourth and fifth toes were present. The haemogram showed severe anaemia with a microcytic hypochromic picture. High-performance liquid chromatography (HPLC) was normal. However, the parents' HPLC was suggestive of beta thalassaemia trait. Whole-exome sequencing revealed Thurston syndrome with beta-thalassaemia in homozygous pattern with a novel mutation. It is a rare genetic syndrome exclusively found in the South Asian population. Due to the rarity, identification of this syndrome is often difficult and requires awareness among clinicians. However, it is important to diagnose the disorder accurately in order to provide appropriate genetic counselling and prognostication to the parents.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2023 |
|---|---|
| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:16 |
|---|---|
| Enthalten in: |
BMJ case reports - 16(2023), 12 vom: 30. Dez. |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Ks, Aswanth [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
Case Reports |
|---|
| Anmerkungen: |
Date Completed 17.01.2024 Date Revised 17.01.2024 published: Electronic Citation Status MEDLINE |
|---|
| doi: |
10.1136/bcr-2022-253086 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM366506730 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM366506730 | ||
| 003 | DE-627 | ||
| 005 | 20240118232052.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 240108s2023 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1136/bcr-2022-253086 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1263.xml |
| 035 | |a (DE-627)NLM366506730 | ||
| 035 | |a (NLM)38160027 | ||
| 035 | |a (PII)e253086 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Ks, Aswanth |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Thurston syndrome with thalassaemia |b a rare case devising a novel molecular and phenotypic variation |
| 264 | 1 | |c 2023 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 17.01.2024 | ||
| 500 | |a Date Revised 17.01.2024 | ||
| 500 | |a published: Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. | ||
| 520 | |a A male infant presented with progressive paleness of the body since 3 months of age. On examination, the child had pallor, microcephaly with dysmorphic facies (depressed nasal bridge, low set ears, retrognathia, high arched palate and tongue hamartoma). Postaxial polydactyly in bilateral hands and feet, broad great toes, with syndactyly of left fourth and fifth toes were present. The haemogram showed severe anaemia with a microcytic hypochromic picture. High-performance liquid chromatography (HPLC) was normal. However, the parents' HPLC was suggestive of beta thalassaemia trait. Whole-exome sequencing revealed Thurston syndrome with beta-thalassaemia in homozygous pattern with a novel mutation. It is a rare genetic syndrome exclusively found in the South Asian population. Due to the rarity, identification of this syndrome is often difficult and requires awareness among clinicians. However, it is important to diagnose the disorder accurately in order to provide appropriate genetic counselling and prognostication to the parents | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Congenital disorders | |
| 650 | 4 | |a Dentistry and oral medicine | |
| 650 | 4 | |a Genetic screening / counselling | |
| 650 | 4 | |a Haematology (incl blood transfusion) | |
| 700 | 1 | |a Bansal, Adity |e verfasserin |4 aut | |
| 700 | 1 | |a Verma, Prashant Kumar |e verfasserin |4 aut | |
| 700 | 1 | |a Bhat, Nowneet Kumar |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t BMJ case reports |d 2008 |g 16(2023), 12 vom: 30. Dez. |w (DE-627)NLM209291001 |x 1757-790X |7 nnns |
| 773 | 1 | 8 | |g volume:16 |g year:2023 |g number:12 |g day:30 |g month:12 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1136/bcr-2022-253086 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 16 |j 2023 |e 12 |b 30 |c 12 | ||