RESUMO
The coexistence of alpha- and beta-thalassemia is not uncommon and neither is a single thalassemia subtype with a hemochromatosis H63D mutation, however the inheritance of all three diseases together has yet to be reported. We present this rare case of co-inherited alpha-thalassemia minor and beta-thalassemia minor initially misdiagnosed as iron deficiency anemia (IDA) in a reproductive aged female with a heterozygous H63D mutation. In our case report, a 27-year-old, Asian female presented with excessive lethargy and fatigue for the past 10 months. A year ago, she was prescribed Ferrous Sulfate 325 mg daily supplementation due to a suspicion of IDA secondary to a history of heavy menstruations. Although her reports displayed a low mean corpuscular volume (MCV) anemia, the patient declined therapy at that time due to abnormal labs, specifically regarding her urine and liver that subsequently lead to a hemochromatosis, heterozygous H63D diagnosis following genetic testing. Subsequently, the patient's anemia presenting in the setting of normal ferritin, high iron saturation, and elevated A2 fraction was most likely in accordance to carrying the alpha-thalassemia minor, beta-thalassemia minor, and heterozygous H63D gene mutations. Genetic testing further clarified two of the four alpha-globin genes were deleted, alpha3.7 and alpha4.2, consistent with alpha-thalassemia trait and a heterozygous, frameshift mutation of c.27dupG on the hemoglobin subunit beta (HBB) gene associated with beta-thalassemia minor. The initial diagnosis of IDA was inaccurate following the iron studies displaying normal ferritin levels. This is the first report of combined alpha- and beta-thalassemia with a hemochromatosis H63D mutation. Although the clinical presentation of our patient and laboratory values are stable, the course of inheriting all three diseases together is unknown and may inflate the risk of future complications beyond reported studies. Frequent monitorization of hemoglobin and iron studies will be conducted to follow this rare presentation and prevent life-threating iron overload.
RESUMO
Objective: To describe and discuss the purposed mechanism of mesenchymal stem cells (MSCs) and their effect as a potential therapeutic in osteoarthritis (OA). Background: OA is a chronic, degenerative joint disease affecting millions worldwide. Traditional management, including physical therapy, anti-inflammatories, intra-articular injections, and surgical procedures are directed towards symptom control rather than disease modification. In light of a better understanding that low-grade inflammation disrupts articular cartilage homeostasis in OA, application of MSCs as a form of regenerative medicine has emerged with the goal to provide symptomatic relief as well as reverse the articular cartilage damage seen in OA. Methods: PubMed was searched using terms 'osteoarthritis', 'mesenchymal stem cell', 'regenerative medicine', 'chondrocyte', and 'articular cartilage' available from 2006 through May 2021. Conclusions: The use of MSC therapy for articular cartilage regeneration through direct tissue growth, differentiation, and inflammation modulations for the treatment of OA is promising. MSCs migrate to injured sites, inhibit pro-inflammatory pathways, and promote tissue repair by releasing paracrine signals and differentiating into specialized chondrocytes. Multiple clinical trials have displayed a significant improvement in both pain and joint function, inflammatory cell reduction within a joint, and articular cartilage growth as well as patient safety. However, high quality evidence supporting the beneficial role of MSCs is lacking due to the limited number of studies, small populations tested, and the use of various derivatives. Although limited, current evidence suggests MSCs are a potential therapeutic in OA and provides a great foundation for further research.
