Chipmunk facies6/13/2023 ![]() Thalassemic patients can be treated in relation to the stage of severity of their condition. Each form can be divided into subcategories. Thalassemia, in general, has two chief forms: alpha thalassemia and beta thalassemia. In thalassemic patients, hemoglobin levels fall below the healthy threshold. The major reason behind thalassemia is the faulty production of alpha or beta chains. Hemoglobin includes alpha and beta chains, and it is important in properly oxygenating the body. ![]() Thalassemia major is an inherited blood disease recognized by the production of abnormal hemoglobin products and was first described by Dr. Anthropometric measurements of peri-oral region in a sample of Iraqi thalassemic patients. How to cite this URL: Al-Taee R, Al-Saedi AI, Nahidh M. How to cite this article: Al-Taee R, Al-Saedi AI, Nahidh M. Keywords: Orofacial measurements, soft tissues, thalassemia major RESULTS: Mouth width showed clinical and statistically significant group differences among all measurements in the study group.ĬONCLUSIONS: All measurements except mouth width showed nonsignificant clinical group differences. Gender and group differences were tested using an independent sample t test. A well-trained researcher carried out five anthropometric measurements by using an electronic digital caliper. MATERIALS AND METHODS: Three hundred Iraqi individuals agreed to participate in this study (150 non-thalassemic and 150 thalassemic patients with an equal distribution of genders). This study aims to assess and compare the orofacial dimensions of β-thalassemia patients with those of a control group across similar ages and gender. Thalassemic patients suffer from severe anemia, which triggers several defense mechanisms in the body, such as bone marrow expansion, which forces the bones to expand, resulting in craniofacial bone deformities. 2 Our patient also had the most common type of genetic mutation reported in north Indian patients.OBJECTIVES: Thalassemia, one of the most widespread autosomal recessive disorders, is characterized by anomalies in the synthesis of hemoglobin beta chains and is frequently coupled with variable craniofacial characteristics. Coexistence of autoimmune haemolytic anaemia and β-thalassaemia intermedia in non-transfusion dependent patients is also limited to case reports, 1 although alloimmunization with positive Coombs test is common in Asian patients with thalassaemia who have received multiple transfusions. Differential diagnoses of ‘Chipmunk facies’ and ‘crew-cut appearance’ include β-thalassaemia major, sickle cell anaemia, very severe iron deficiency anaemia and hereditary spherocytosis. This is the first case of β-thalassaemia intermedia presenting with advanced extramedullary haematopoiesis. He is awaiting a human leucocyte antigen-matched stem cell transplant from his younger sibling who is not a carrier of the disease. The patient was treated with hypertransfusion and prednisolone 0.5 mg/kg on which his haemoglobin stabilised at around 10 g/dL. Other aetiologies of autoimmune haemolytic anaemia were ruled out. Further testing revealed positive direct Coombs test. Genetic mutation analysis revealed the IVSI 6(T→C) mutation (thymine to cysteine substitution at the 6th nucleotide position of the intervening sequence I of the β-globin gene). However, the presentation at adolescence with no transfusion since childhood established a diagnosis of β-thalassaemia intermedia. Haemoglobin electrophoresis of this patient revealed fetal haemoglobin (HbF) of 97% and alpha2 haemoglobin of 2.1%. Vertical striations due to extramedullary haematopoiesis give rise to this appearance. Sagittal view of the X-ray of the skull demonstrating a ‘crew-cut appearance’.
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