Haemophilia is a genetic disease with an X-linked recessive inheritance. It is a bleeding disorder that affects mainly males. There are two types of haemophilia, depending on the affected gene – haemophilia A (F8 gene) and haemophilia B (F9 gene). According to the coagulation levels of factor VIII/IX, haemophilia can be mild (5–40%), moderate (1–5%), or severe (less than 1%).
The aim of this study is to perform genetic profiling of Bulgarian patients diagnosed with haemophilia A and B. Presented are three clinical cases of haemophilia A and one of haemophilia B.
In total, 75 individuals from 36 families were examined for haemophilia A and for haemophilia B – 11 individuals from 6 families. Genomic DNA was isolated, and 26 exons from F8 gene and 8 exons fromF9gene were sequenced with Sanger sequencing.
The four presented clinical cases are of interest due to the importance of the detected mutations for the purposes of prenatal diagnostics and for future gene therapy of the affected patients.
Elucidating haemophilia at the genetic level is of utmost importance for the implementation of new therapeutic approaches and the postnatal care of newborns with inherited genetic defects, as well as for the purposes of prenatal diagnostics. Read the full article here.
Beta-thalassemia is one of the most common autosomal-recessive disorders. The advances in the chelator treatment and the non-invasive methods for the assessment and follow up of the iron overload have led to an improved quality and longer duration of the life of patients with thalassemia. The liver is the primer target organ affected both directly and indirectly. In this article are reviewed the most common liver complications such as liver fibrosis and cirrhosis, non-invasive methods for evaluation of the iron deposition, chronic viral hepatitis, hepatocellular carcinoma and cholelithiasis. Read the full article 
Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Nataliya Bogoeva, Georgi Iskrov, Georgi Stefanov, and Rumen Stefanov, affiliated with Institute for Rare Disease and Department of Social Medicine and Public Health at the Medical University of Plovdiv, аre actively contributing to the Screen4Care project, which started in 2021. This project is dedicated to addressing the challenge of expediting the diagnosis of rare diseases, with particular focus on genetic newborn screening and digital technologies.
Acromegaly is a rare disease, usually caused by a pituitary tumor. It typically exhibits slow evolution and can result in numerous complications. In the present case report, the patient presents with hyperthyroidism associated with ophthalmopathy and right nodular goiter. The laboratory tests reveal persistent high levels of phosphorus without an apparent cause. After ruling out common pathologies associated with this finding, a focus ia placed on the clinical aspects associated with acromegaly, a rare cause of hyperphosphatemia. Laboratory tests and MRI confirm the diagnosis. This case highlights the challenges in diagnosing and managing a rare endocrine pathology. Read the full article 
Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease inherited in an autosomal dominant manner. Disease-causing variants in endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes are detected in around 90% of the patients; also 2% of patients harbor pathogenic variants at SMAD4 and GDF2. Importantly, the genetic cause of 8% of patients with clinical HHT remains unknown.
Estimates of rare disease (RD) population impact in terms of number of affected patients and accurate disease definition is hampered by their under-representation in current coding systems. This study tests the use of a specific RD codification system (ORPHAcodes) in five European countries over the period January 2019-September 2021.
Leigh Syndrome (LS) is a rare genetic neurometabolic disorder, that leads to the degeneration of the central nervous system. LS can be caused by over 80 mutations in mitochondrial or nuclear DNA. Patient registries are important for many reasons, such as studying the natural history of the disease, improving the quality of care, and understanding the healthcare burden. For rare diseases, patient registries are significantly important as patient numbers are small, and funding is limited.
Duchenne muscular dystrophy (DMD) is a monogenic muscle-wasting disorder and a priority candidate for molecular and cellular therapeutics. Although rare, it is the most common inherited myopathy affecting children and so has been the focus of intense research activity. It is caused by mutations that disrupt production of the dystrophin protein, and a plethora of drug development approaches are under way that aim to restore dystrophin function. In this article the latest therapeutic strategies that are under development and being deployed to treat DMD are discusses. Lessons from drug development programmes are likely to have a major impact on the DMD field, but also on molecular and cellular medicine more generally. Read the full article 
Maffucci syndrome is an extremely rare disease which can manifest symptoms as early as childhood. It is estimated that there have been <300 cases reported globally. However, this number is likely to be an underestimate. Maffucci syndrome is characterized by multiple enchondromas and soft tissue hemangiomas, which can cause growth and developmental malformations. In addition to bone deformities, pathological fractures and a loss of mobility, patients with Maffucci syndrome may develop secondary central chondrosarcoma and have a higher risk of developing non-skeletal malignant tumors, such as gliomas and mesenchymal ovarian tumors. This report provides information about this disease through the use of imaging, physical examinations, clinical manifestations and the treatment strategy used in a case of 15-year-old male diagnosed with Maffucci syndrome. Read the full article